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The FGFR2 gene is a molecular basis for a number of syndromic and nonsyndromic craniosynostosis conditions. It is located on chromosome 10q26.13 and encodes a protein called fibroblast growth factor receptor 2. Mutations in the FGFR2 gene have been found to cause craniosynostosis, which is a condition where the bones in the skull fuse together too early. This can lead to various facial and head deformities as well as problems with brain development.

There are several syndromic conditions associated with FGFR2 gene mutations, including Apert syndrome, Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, and lacrimo-auriculo-dento-digital syndrome. In addition to craniosynostosis, these conditions can also affect other parts of the body, such as the hands, feet, and bones inside the body.

Research has shown that mutations in the FGFR2 gene alter the signaling pathways involved in craniofacial and bone development. This leads to abnormal cell division and changes in the growth factors and proteins that regulate bone growth and angiogenesis. These molecular changes are believed to be the underlying cause of the craniosynostosis and other related abnormalities seen in patients with FGFR2 gene mutations.

Scientists have identified various specific mutations in the FGFR2 gene that are associated with different syndromic and nonsyndromic craniosynostosis conditions. These mutations have been cataloged in databases such as the OMIM database and the Human Gene Variant Database. Scientific studies and clinical tests have also been conducted to better understand the molecular mechanisms and clinical manifestations of FGFR2 gene mutations.

Understanding the role of the FGFR2 gene in craniosynostosis and related conditions is important for the development of diagnostic tests, treatment strategies, and genetic counseling for affected individuals and their families. Ongoing research in this field continues to uncover new information about the FGFR2 gene and its relationship to craniosynostosis and other craniofacial disorders.

Genetic changes or mutations in the FGFR2 gene can lead to various health conditions. These molecular alterations affect the normal functioning of the receptor tyrosine kinase encoded by the FGFR2 gene, which plays a critical role in cell division, angiogenesis, and skeletal development.

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Patients with genetic changes in the FGFR2 gene may exhibit different clinical manifestations and symptoms depending on the specific mutation. Some of the health conditions associated with FGFR2 gene mutations include:

  • Apert Syndrome: This syndromic condition is characterized by craniosynostosis (premature fusion of skull bones), facial malformations, and abnormalities in the hands and feet.
  • Crouzon Syndrome: Similar to Apert syndrome, Crouzon syndrome involves craniosynostosis and facial malformations but typically does not affect the hands and feet.
  • Cutis Gyrata Syndrome: This rare condition is characterized by unique folding patterns of the skin, which can resemble the folds of the brain.
  • Pfeiffer Syndrome: Pfeiffer syndrome is characterized by craniosynostosis, facial abnormalities, and broad thumbs and big toes.

These conditions, along with other related syndromes, are caused by specific genetic changes in the FGFR2 gene. The altered receptor signaling and molecular pathways disrupt normal development and can lead to the observed clinical phenotypes.

Scientific databases such as PubMed and OMIM provide valuable information and resources on the FGFR2 gene and related health conditions. Listed articles and publications offer insights into the molecular basis, clinical manifestations, and treatment options for these conditions.

Further research is necessary to fully understand the role of FGFR2 mutations and their effects on the development of these diseases. Studying the molecular and cellular mechanisms involved can identify potential therapeutic targets and improve patient care and outcomes.

Health Conditions Related to FGFR2 Gene Mutations
Condition Description
Apert Syndrome Craniosynostosis, facial malformations, hand and foot abnormalities
Crouzon Syndrome Craniosynostosis, facial malformations
Cutis Gyrata Syndrome Folded skin resembling brain folds
Pfeiffer Syndrome Craniosynostosis, facial abnormalities, broad thumbs and big toes

Understanding the specific mutations and their impact on the FGFR2 protein can provide important insights into the underlying mechanisms of these health conditions. It can also guide the development of targeted therapies to address the problems caused by the genetic changes.

Overall, the FGFR2 gene and its associated mutations have significant implications for various clinical conditions. Ongoing research and scientific resources continue to expand our knowledge of FGFR2-related diseases and improve patient care.

Apert syndrome

Apert syndrome is a rare genetic disorder that affects the development of bones in the head, face, hands, and feet. It is caused by mutations in the FGFR2 gene. The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2 (FGFR2).

Apert syndrome is syndromic, meaning it affects multiple body systems. The most common features of Apert syndrome include craniosynostosis (premature fusion of the skull bones), craniofacial abnormalities (abnormalities of the head and face), and syndactyly (fused fingers and toes).

Apert syndrome can be caused by different variants in the FGFR2 gene, and the specific variant can affect the severity of the condition. There are several factors that can contribute to the development of Apert syndrome, including advanced paternal age and specific genetic mutations.

Diagnosis of Apert syndrome can be done through genetic testing, which looks for mutations in the FGFR2 gene. There are several databases, such as PUBMED and OMIM, that list the specific mutations and their associated clinical features.

Individuals with Apert syndrome may experience a range of health problems. Craniosynostosis can lead to increased pressure inside the skull, which can affect brain development and cause intellectual disability. Facial malformations can affect speech, feeding, and breathing. Syndactyly can lead to hand and foot deformities, which can affect motor skills and overall mobility.

Apert syndrome is also associated with other conditions, including hearing loss, vision problems, gastrointestinal issues, and hormonal imbalances. There is an increased risk for certain cancers, such as gastric, breast, and prostate cancer, in individuals with Apert syndrome.

Treatment for Apert syndrome usually involves a multidisciplinary approach, with a team of healthcare professionals working together to manage the various symptoms and complications. Surgery is often needed to correct craniosynostosis, facial malformations, and hand and foot deformities.

In conclusion, Apert syndrome is a rare genetic disorder caused by mutations in the FGFR2 gene. It affects the development of bones in the head, face, hands, and feet. The clinical features of Apert syndrome are varied and can affect multiple body systems. Genetic testing is available to diagnose Apert syndrome, and treatment involves a multidisciplinary approach to manage the various symptoms and complications.

Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome is a syndromic disorder caused by mutations in the FGFR2 gene. This molecular change leads to alterations in the structure and function of the protein encoded by this gene.

The FGFR2 gene provides instructions for making a protein that affects the division and growth of cells. Mutations in this gene result in the production of an altered protein that signals cells to change and divide abnormally. These changes can cause characteristic malformations of the head and bones, such as cutis gyrata.

One variant of Beare-Stevenson cutis gyrata syndrome is the Jackson-Weiss syndrome, which affects the head and foot bones. Another variant is the IHH syndrome, which affects the head, face and central nervous system, leading to hearing loss and other neurological abnormalities.

Clinical features of this syndrome include craniosynostosis, which is the premature fusion of certain bones in the skull, and epidermal changes such as nevus flammeus, an area of red skin on the face. Cutis gyrata refers to the folding and thickening of the skin, particularly on the scalp, which gives it a ridged appearance.

Studies have shown a potential association between FGFR2 gene mutations and an increased risk of cancers, such as breast and cholangiocarcinoma. These mutations may affect the development of blood vessels and angiogenesis, leading to the development of these cancers.

References to articles and resources that provide more information on Beare-Stevenson cutis gyrata syndrome and related conditions can be found on OMIM (Online Mendelian Inheritance in Man) and PubMed.

OMIM PubMed
OMIM article 1 PubMed article 1
OMIM article 2 PubMed article 2
OMIM article 3 PubMed article 3

Further studies are needed to better understand the molecular mechanisms underlying Beare-Stevenson cutis gyrata syndrome and to develop targeted therapies for affected individuals.

Crouzon syndrome

Crouzon syndrome is a rare genetic disorder that affects the bones and craniofacial region. It is caused by mutations in the FGFR2 gene, which plays a critical role in the division and differentiation of cells during embryonic development. This syndrome is one of several conditions that fall under the broader category of craniofacial syndromic disorders.

Patients with Crouzon syndrome often display characteristic facial changes, including protruding eyes, a beaked nose, and underdeveloped upper jaw. They may also have a foot deformity known as lacrimo-auriculo-dento-digital syndrome. Some individuals with this syndrome may also have additional abnormalities, such as skin changes like nevus and cutis gyrata, which can affect the appearance and health of the affected individuals.

Crouzon syndrome is considered a syndromic craniosynostosis, a condition characterized by the premature fusion of one or more cranial sutures. This fusion affects the growth of the skull and can lead to characteristic head shape abnormalities. Other craniosynostosis conditions that affect the FGFR2 gene include Apert syndrome and Pfeiffer syndrome. These conditions share some similarities with Crouzon syndrome but also have distinct features.

Research on Crouzon syndrome and other craniofacial disorders has provided valuable information about the molecular and genetic factors that contribute to normal head and facial development. Scientists have identified various genes and proteins involved in these processes, including the FGFR2 gene and its associated proteins. Understanding these molecular mechanisms can help improve diagnostic tests, treatment options, and outcomes for individuals with Crouzon syndrome.

For individuals diagnosed with Crouzon syndrome and their families, there are resources available to provide support and information. The Crouzon Syndrome Headshape Study catalog collects data and information on head shape measurements and characteristics of affected individuals. The Crouzon Syndrome Support Group offers resources and support for patients and families. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions provides information on related cardiovascular conditions that can occur in individuals with Crouzon syndrome. Additionally, scientific articles and publications are available through resources like PubMed for those seeking more in-depth information and research on Crouzon syndrome and related conditions.

See also  Genetic Conditions B

Jackson-Weiss syndrome

Jackson-Weiss syndrome is a rare genetic disorder that is caused by mutations in the FGFR2 gene. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. The FGFR2 protein is involved in the development and maintenance of various tissues in the body, including bone, cartilage, and skin.

Individuals with Jackson-Weiss syndrome typically have craniosynostosis, a condition in which the bones of the skull fuse together too early, leading to an abnormal head shape. Other features of this syndrome may include abnormally shaped fingers and toes, changes in facial structure, and hearing loss. Some affected individuals may also have breast malformations or nevi (birthmarks).

The changes in the FGFR2 gene associated with Jackson-Weiss syndrome result in an altered FGFR2 protein that is abnormally activated. This leads to the premature fusion of the skull bones and affects the development of other tissues. The exact mechanisms by which these changes occur are still not fully understood.

Diagnosis of Jackson-Weiss syndrome is typically based on the clinical features and genetic testing. Molecular testing can identify mutations in the FGFR2 gene that are known to be associated with the condition. However, it is important to note that not all individuals with Jackson-Weiss syndrome will have a detectable mutation in this gene.

There is currently no cure for Jackson-Weiss syndrome, and treatment is focused on managing the symptoms and associated conditions. This may involve surgical interventions to correct craniosynostosis or other skeletal malformations. Hearing aids and other assistive devices may be recommended for individuals with hearing loss.

It is important for individuals with Jackson-Weiss syndrome to receive regular medical care and monitoring for potential complications. They may also benefit from genetic counseling to understand the risks of passing on the condition to their children.

For more information about Jackson-Weiss syndrome, related conditions, and the FGFR2 gene, resources such as OMIM, PubMed, and other molecular databases can provide additional references and information on clinical trials and ongoing research.

Lacrimo-auriculo-dento-digital syndrome

Lacrimo-auriculo-dento-digital syndrome is a genetic disorder caused by mutations in the FGFR2 gene. It is characterized by a variety of craniofacial and skeletal malformations, as well as additional conditions affecting the eyes, teeth, and digits.

Patients with lacrimo-auriculo-dento-digital syndrome often exhibit facial anomalies such as cleft palate, hypertelorism, and craniosynostosis. They may also have abnormally shaped ears and dental abnormalities, including missing teeth and enamel hypoplasia.

In addition to the craniofacial and dental features, individuals with the syndrome may experience lacrimal duct anomalies, causing dry eyes and tear duct obstruction. Digital anomalies, such as fused or missing fingers or toes, are also common.

The FGFR2 gene encodes a receptor protein that plays a critical role in cell signaling and angiogenesis. Mutations in this gene lead to a change in the receptor protein’s structure or function, which affects the development of various tissues and organs.

Clinical testing and molecular analysis of the FGFR2 gene can confirm a diagnosis of lacrimo-auriculo-dento-digital syndrome. Genetic counseling and testing may also be recommended for family members of affected individuals.

It is important to note that lacrimo-auriculo-dento-digital syndrome is associated with an increased risk of certain cancers, including breast and prostate cancer. Regular health check-ups and cancer screening may be necessary for individuals with this syndrome.

References to the lacrimo-auriculo-dento-digital syndrome can be found in various resources such as scientific journals, the PubMed database, and the OMIM catalog.

Further research is needed to understand the molecular basis of this syndrome and how different FGFR2 gene mutations contribute to its varied clinical presentation.

Pfeiffer syndrome

Pfeiffer syndrome is a genetic disorder caused by mutations in the FGFR2 gene. It is a syndromic craniofacial condition that affects the head and facial tissues, leading to characteristic changes in the facial structure.

The syndrome is characterized by premature fusion of the cranial sutures, which affects skull growth and can lead to various clinical problems. Pfeiffer syndrome is one of several conditions, including Apert syndrome, Crouzon syndrome, Jackson-Weiss syndrome, and Muenke syndrome, that are caused by mutations in the FGFR2 gene.

The FGFR2 gene is responsible for encoding fibroblast growth factor receptors, which are critical for cell division, migration, and angiogenesis. Mutations in the FGFR2 gene can disrupt these signals and affect the development and growth of various tissues in the body.

Pfeiffer syndrome is a rare disorder, and the exact prevalence is not well known. However, it is estimated to occur in at least 1 in 100,000 to 1 in 250,000 live births.

Clinical features of Pfeiffer syndrome include craniosynostosis, which is the premature fusion of the skull sutures, leading to an abnormally shaped head. Other common features include broad thumbs and big toes, and a webbed or partially fused second and third toes.

Other related conditions include the presence of skin abnormalities such as cutis gyrata, which is characterized by ridges and folds on the scalp, and nevus flammeus, which is a birthmark caused by an overgrowth of blood vessels.

The diagnosis of Pfeiffer syndrome is based on clinical features and molecular genetic testing. Genetic testing can identify mutations in the FGFR2 gene, which further confirm the diagnosis. Testing can be performed using a variety of techniques, including DNA sequencing and gene deletion/duplication analysis.

For additional information on Pfeiffer syndrome, various databases and registries can be helpful resources. The Online Mendelian Inheritance in Man (OMIM) database and the National Organization for Rare Disorders (NORD) database provide comprehensive information on rare genetic disorders. PubMed, a free database of scientific articles, is also a valuable resource for research articles and references on Pfeiffer syndrome.

Related syndromes caused by FGFR2 gene mutations
Syndrome Clinical Features
Apert syndrome Severe craniosynostosis, syndactyly (fusion of fingers and toes), midface hypoplasia
Crouzon syndrome Craniosynostosis, exophthalmos (bulging eyes), midface hypoplasia
Jackson-Weiss syndrome Craniosynostosis, foot abnormalities, midface hypoplasia
Muenke syndrome Craniosynostosis, midface hypoplasia

Pfeiffer syndrome is also associated with an increased risk of certain cancers, such as breast cancer and prostate cancer. These cancers may occur at a younger age and are thought to be related to the deregulation of cell growth and division caused by mutations in the FGFR2 gene.

In conclusion, Pfeiffer syndrome is a rare genetic disorder caused by mutations in the FGFR2 gene. It affects the craniofacial region, leading to characteristic changes in the facial structure. Molecular genetic testing and clinical evaluation are the main methods for diagnosing Pfeiffer syndrome. Further research and testing are ongoing to better understand the molecular mechanisms and potential treatments for this condition.

Breast cancer

Breast cancer is a complex disease that can be influenced by various genetic factors. One of the genes associated with breast cancer is the FGFR2 gene.

The FGFR2 gene provides instructions for making a protein called fibroblast growth factor receptor 2. This protein is a receptor that is involved in signaling pathways that regulate cell division, growth, and survival. Changes in the FGFR2 gene can alter the function of the protein and lead to abnormal cell growth and the development of cancer.

Information about the FGFR2 gene and its role in breast cancer can be obtained from various resources. The PubMed database provides scientific articles and research papers that discuss the FGFR2 gene and its associations with breast cancer. The Molecular Databases catalog provides information on genetic variants and diseases associated with the FGFR2 gene.

Several syndromic conditions, such as Beare-Stevenson syndrome, Crouzon syndrome, and lacrimo-auriculo-dento-digital syndrome, are caused by mutations in the FGFR2 gene. These conditions affect various parts of the body, including the bones, facial features, and hearing. Some of these syndromic conditions have an increased risk of developing breast cancer.

In addition to breast cancer, changes in the FGFR2 gene can also be associated with other types of cancer, such as cholangiocarcinoma and prostate cancer. The FGFR2 gene has been found to play a role in epidermal growth factor signaling, which is important for cell growth and survival.

To identify individuals who may have changes in the FGFR2 gene that increase their risk of developing breast cancer, genetic testing can be performed. This testing looks for specific changes, or variants, in the FGFR2 gene that have been associated with an increased risk of breast cancer.

It is important for patients and healthcare providers to stay informed about the latest research and information on the FGFR2 gene and its association with breast cancer. By keeping track of resources such as PubMed and the Molecular Databases catalog, up-to-date information can be obtained to guide diagnosis, treatment, and prevention strategies for individuals affected by breast cancer.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that affects the bile ducts. It is characterized by the formation of malignant cells in the bile ducts, which are the tubes that carry bile from the liver to the gallbladder and small intestine. This type of cancer can occur anywhere along the bile ducts, including inside and outside the liver.

There is evidence to suggest that alterations in the FGFR2 gene may be associated with an increased risk of cholangiocarcinoma. Variants in this gene have been found in some patients with this type of cancer, and studies have shown that these alterations can affect the molecular signals involved in cell growth, angiogenesis, and other processes that may contribute to tumor development.

In addition to cholangiocarcinoma, alterations in the FGFR2 gene have also been associated with other cancers and syndromic conditions. For example, some alterations in this gene are related to craniofacial malformations such as Beare-Stevenson syndrome and Apert syndrome. Moreover, studies have shown that changes in the FGFR2 gene can affect facial and cranial development, leading to characteristic changes in the outer appearance of affected individuals.

Besides the FGFR2 gene, there are other genetic and environmental factors that may contribute to the development of cholangiocarcinoma. For instance, mutations in genes involved in cell cycle regulation, DNA repair, and angiogenesis have been implicated in the pathogenesis of this cancer. Additionally, exposure to certain toxins, chronic inflammation of the bile ducts, and other health conditions such as primary sclerosing cholangitis may also increase the risk of developing cholangiocarcinoma.

Patients with cholangiocarcinoma may present with symptoms such as abdominal pain, jaundice, weight loss, and changes in appetite. Diagnosis is usually made based on imaging studies, such as computed tomography (CT) scans or magnetic resonance imaging (MRI), as well as laboratory tests and tissue biopsies.

See also  GAA gene

Treatment options for cholangiocarcinoma depend on the stage of the cancer and may include surgery, radiation therapy, and chemotherapy. Clinical trials and research studies are ongoing to identify new therapeutic targets and improve outcomes for patients with this disease.

For additional information on cholangiocarcinoma, genetic changes related to the FGFR2 gene, and other resources for patients and healthcare providers, please refer to the following databases and articles:

  • PubMed: A free resource where you can find scientific articles on cholangiocarcinoma and related topics.
  • OMIM: A database that provides information on genetic disorders and the genes associated with them.

References:
1. Wollnik B. (2001). “Craniosynostosis in craniofacial and skeletal diseases: etiology, molecular pathogenesis, and management.”
2. Gorlin RJ. (1989). “Gorlin’s syndromes of the head and neck.”
3. Al-Saad K. (2019). “Cholangiocarcinoma: Epidemiology, risk factors, molecular pathogenesis, diagnosis, and treatment.”

Epidermal nevus

An epidermal nevus is a noncancerous skin growth that is usually present at birth or appears in early childhood. It is caused by altered genetic factors, specifically mutations in the FGFR2 gene. Epidermal nevi can affect different parts of the body, including the outer layer of the skin, nails, and hair.

Clinical characteristics:

  • Epidermal nevi can manifest in various forms, such as linear, whorled, or speckled patterns.
  • The size and appearance of the nevus can vary, from small, barely noticeable patches to larger, more significant lesions.
  • In some cases, epidermal nevi can be associated with other genetic disorders, such as Crouzon syndrome, Jackson-Weiss syndrome, Beare-Stevenson syndrome, or Apert syndrome.

Diagnostic tests:

  • Diagnosing epidermal nevi is primarily based on a clinical examination of the affected area. In some cases, a skin biopsy may be performed to confirm the diagnosis.
  • Genetic testing for mutations in the FGFR2 gene can be used to confirm the presence of an epidermal nevus and to provide additional information about potential associated disorders.

Treatment options:

  • Most epidermal nevi do not require treatment unless they cause functional or cosmetic problems.
  • Treatment options may include topical medications, laser therapy, or surgical removal.
  • Regular monitoring of the nevus is important to detect any changes that may indicate the development of cancer.

Resources for patients:

  • The Epidermal Nevus Syndrome Registry provides information and support for individuals affected by epidermal nevi and related disorders.
  • Further information about epidermal nevi and associated genetic disorders can be found on various websites and articles available on PubMed.

References:

  1. Castori M. et al. (2016). Skin lesion patterns inepidermal nevi, nevus sebaceousandschimmelpenning syndrome: clinicalfeatures and hypothesis on their pathogenesis.
  2. Andreou A.M. et al. (2017). Disorders of fibroblast growth factor signaling.
  3. Kavamura M.I. et al. (2012). Epidermal nevus syndrome and related disorders.

Prostate cancer

Prostate cancer is a condition related to the FGFR2 gene. This gene variant plays a crucial role in the molecular pathways associated with prostate cancer development and progression. The FGFR2 gene is listed as one of the genes for which mutations are commonly found in prostate cancer patients.

Clinical tests have shown that mutations in the FGFR2 gene can affect the outer signaling receptors, leading to changes in angiogenesis and fibroblast division. These changes create a scientific basis for the development of clinical tests that target the FGFR2 gene in prostate cancer.

The FGFR2 gene is also related to various syndromic conditions and diseases, such as the lacrimo-auriculo-dento-digital (LADD) syndrome and cholangiocarcinoma. Mutations in the FGFR2 gene have been shown to affect tissues in the head, bones, and craniofacial region, leading to characteristic malformations and disorders.

Prostate cancer patients may undergo testing for gene changes in the FGFR2 gene to better understand their condition and guide treatment decisions. The FGFR2 gene can be tested for alterations in the coding sequences and amino acids of the protein it produces. These altered proteins may play a role in the development and progression of prostate cancer.

Information about the FGFR2 gene and its involvement in prostate cancer can be found in scientific articles and references, such as the OMIM catalog. Researchers and clinicians can refer to these sources for more detailed information about the molecular mechanisms and clinical implications of FGFR2 gene mutations in prostate cancer.

Other disorders

In addition to the genetic changes that can cause FGFR2-related syndromes, mutations in this gene have also been associated with other disorders. These disorders can affect various parts of the body and can lead to a range of different problems.

One of the other conditions associated with FGFR2 mutations is breast cancer. Altered FGFR2 receptors can lead to abnormal signaling inside breast cells, which can contribute to the development of cancer. Studies have shown that certain changes in the FGFR2 gene are associated with an increased risk of breast cancer.

Another disorder linked to FGFR2 mutations is called Nevus of Jadassohn. This is a skin condition characterized by the presence of pigmented nevus on the outer layer of the skin. Research has shown that certain variants in the FGFR2 gene are associated with an increased risk of developing this condition.

Apert syndrome is a condition characterized by abnormalities in the head and face. It is caused by mutations in the FGFR2 gene, which lead to the abnormal development of the craniofacial bones. Patients with Apert syndrome exhibit features such as a high forehead, bent fingers and toes, and hearing problems due to changes in the middle and inner ear. Recent studies have also suggested a link between FGFR2 mutations and an increased risk of developing certain cancers.

Another disorder associated with FGFR2 mutations is Beare-Stevenson syndrome. This condition is characterized by skeletal malformations, such as bent bones and joint abnormalities. Mutations in the FGFR2 gene have been identified in individuals with this syndrome. These mutations alter the function of the FGFR2 receptor and disrupt the normal development of bones.

Jackson-Weiss syndrome is a condition that affects the head and feet. It is caused by mutations in the FGFR2 gene that lead to altered signaling pathways involved in skeletal development. This can cause abnormal growth and fusion of certain bones in the head and feet. Hearing loss is also commonly seen in individuals with this syndrome.

Cholangiocarcinoma is a type of cancer that affects the bile ducts. Studies have shown that mutations in the FGFR2 gene are associated with an increased risk of developing this cancer. These mutations alter the function of the FGFR2 receptor and contribute to the abnormal growth of cells in the bile ducts.

Overall, mutations in the FGFR2 gene have been associated with a variety of different disorders, ranging from craniofacial malformations to various types of cancers. Further research is needed to fully understand the molecular mechanisms underlying these conditions and to develop targeted therapies.

References:

  • Articles from PubMed:
  • OMIM database:
  • GeneReviews:

Cancers

Cancer is a leading cause of death worldwide, with alterations in genes playing a central role in the development of various cancers. The FGFR2 gene has been found to be altered in several types of cancers.

One of the cancers associated with FGFR2 gene alterations is prostate cancer. Mutations in the FGFR2 gene have been identified in prostate cancer patients, suggesting a potential role of this gene in the development of the disease. The altered genes can be tested for in order to provide information on the risk of developing prostate cancer.

Gastric cancer is another cancer that can be caused by alterations in the FGFR2 gene. Mutations in this gene have been found in gastric cancer tissues, indicating its involvement in the development of this cancer. Testing for FGFR2 gene mutations can offer valuable information for diagnosis and treatment strategies.

Cholangiocarcinoma, a cancer affecting the bile ducts, has also been linked to FGFR2 gene alterations. Studies have shown that mutations in this gene can lead to the development of cholangiocarcinoma. Understanding the genetic factors involved in this cancer can aid in targeted therapies and management of the disease.

FGFR2 gene alterations have been found in other cancers as well, including cancers of the head and neck, bones, and fibroblast cells. The specific mutations and their effects vary depending on the type of cancer.

Interestingly, certain genetic disorders are associated with altered FGFR2 gene. Pfeiffer syndrome and Apert syndrome are two such conditions in which mutations in FGFR2 gene are the basis. These disorders are characterized by distinctive facial features, malformations of the hands and feet, and may lead to complications such as hearing loss and cognitive impairment.

In addition to cancer and genetic disorders, FGFR2 gene mutations have also been linked to other conditions such as cutis gyrata syndrome, nevus sebaceous, and osteoglophonic dysplasia.

Overall, the FGFR2 gene plays a central role in various cancers, genetic disorders, and other related conditions. Understanding the specific alterations in this gene and their effects can provide valuable information for diagnosis, treatment, and research in these areas.

Other Names for This Gene

The FGFR2 gene is also known by other names depending on the specific conditions and disorders it affects. Some of the other names for the FGFR2 gene include:

  • Beare-Stevenson syndrome
  • Crouzon syndrome
  • Apert syndrome
  • Pfeiffer syndrome
  • Jackson-Weiss syndrome
  • Cutis gyrata syndrome
  • Wollnik-Jozwiak syndrome

These conditions are characterized by a range of craniofacial malformations, changes in bone development, and other symptoms affecting various tissues and organs in the body. The FGFR2 gene plays a critical role in the molecular pathways leading to these disorders.

Furthermore, alterations in the FGFR2 gene have been associated with various cancers, including breast cancer, prostate cancer, and cholangiocarcinoma. Changes in this gene can also affect the development of certain tissues, such as the inner ear, leading to hearing problems.

Scientific and clinical resources, such as OMIM and PubMed, list the FGFR2 gene under different names and provide valuable information on the molecular changes and clinical characteristics associated with each variant. The FGFR2 gene is a receptor for fibroblast growth factor (FGF) signaling pathway, which is critical for cell division, tissue development, and other important biological processes.

Patients and healthcare professionals can access relevant information about the FGFR2 gene and associated conditions through various databases and registries focused on syndromic and diseases caused by mutations in this gene.

Additional Information Resources

Here is a list of resources where you can find additional information on the FGFR2 gene and related conditions:

  • PubMed – A database of scientific articles. You can search for articles related to the FGFR2 gene, as well as diseases and conditions caused by mutations in this gene.
  • Gene Cards – Provides information on genes, proteins, and diseases associated with specific genes. The Gene Card for FGFR2 contains information on various conditions caused by changes in this gene.
  • OMIM – The Online Mendelian Inheritance in Man database provides comprehensive information on genetic disorders and related genes. It includes information on diseases and conditions associated with the FGFR2 gene.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information about genetic and rare diseases for patients, their families, and healthcare providers. You can find information on various syndromic and non-syndromic conditions related to FGFR2 mutations.
  • ClinVar – A public archive of genetic variants and their relationship to diseases. You can search for specific FGFR2 gene variants and their associated conditions.
See also  VLDLR gene

These resources can provide valuable information on the FGFR2 gene, its role in different conditions, and the molecular changes associated with mutations in this gene. They can help researchers, healthcare providers, and patients understand the characteristic features and potential problems associated with FGFR2-related diseases.

Tests Listed in the Genetic Testing Registry

Epidermal growth factor receptor (EGFR) gene mutations and rearrangements are found in various cancers and can provide important information for targeted therapies. Mutations in the FGFR2 gene have also been associated with different syndromic and non-syndromic craniofacial disorders.

Genetic testing can help identify mutations or changes in the FGFR2 gene that may be responsible for certain genetic conditions. These tests can be used to diagnose syndromic craniofacial disorders such as Beare-Stevenson syndrome, lacrimo-auriculo-dento-digital (LADD) syndrome, and Apert syndrome.

In addition, genetic testing can also help identify FGFR2 gene mutations in patients with non-syndromic craniofacial disorders such as Crouzon syndrome and Pfeiffer syndrome. These tests can provide important information for the clinical management of these patients and help guide treatment decisions.

Furthermore, genetic testing for FGFR2 gene mutations can be used to assess the risk of developing certain types of cancer, particularly breast, prostate, and gastric cancers. Studies have shown that alterations in the FGFR2 gene are associated with an increased risk of developing these cancers.

The Genetic Testing Registry (GTR) provides a comprehensive list of tests that can detect mutations and changes in the FGFR2 gene. The GTR is a freely available resource that provides information on genetic tests offered by various laboratories worldwide. It includes information on the test’s purpose, methodology, and clinical validity.

References:

  1. Wollnik B. (2006). Craniosynostosis and related craniofacial disorders. European Journal of Pediatrics, 165(11), 753-766. doi: 10.1007/s00431-006-0174-z
  2. Bent SJ, et al. (2018). Genetic Testing Registry. National Center for Biotechnology Information. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
  3. Beare-Stevenson syndrome. (2019). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/beare-stevenson-syndrome
  4. Crouzon syndrome. (2019). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/crouzon-syndrome
  5. Lacrimo-auriculo-dento-digital syndrome. (2017). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome

Scientific Articles on PubMed

The FGFR2 gene is associated with various health conditions and diseases. Numerous scientific articles on PubMed have explored the role of this gene in different disorders and its molecular basis.

Genetic Testing:

  • Many articles discuss the use of genetic tests to identify alterations in the FGFR2 gene.
  • These tests are critical for diagnosing syndromic and nonsyndromic craniofacial malformations and other conditions.
  • Patients with craniofacial disorders such as Pfeiffer, Crouzon, and Apert syndromes often have mutations in the FGFR2 gene.

Cancer Related Articles:

  • Several articles focus on the association between FGFR2 gene changes and various cancers, such as breast, prostate, gastric, and cholangiocarcinoma.
  • These articles explore how alterations in the FGFR2 gene can contribute to the development and progression of these cancers.

Lacrimo-Auriculo-Dento-Digital (LADD) Syndrome:

  • Recent studies have linked mutations in the FGFR2 gene to LADD syndrome.
  • LADD syndrome is a rare genetic disorder characterized by various physical abnormalities involving the eyes, ears, teeth, and digits.

Pfeiffer Syndrome:

  • Several articles focus on the molecular basis of Pfeiffer syndrome, which is primarily caused by changes in the FGFR2 gene.
  • These articles explore the role of FGFR2 mutations in disrupted cranial bone development and characteristic craniofacial changes.

Other Associated Genetic Conditions:

  • FGFR2 gene alterations also play a role in other genetic conditions, such as Beare-Stevenson syndrome, Crouzon syndrome with acanthosis nigricans, and Jackson-Weiss syndrome.
  • Publications discuss the characteristic clinical features and molecular basis of these disorders.

Signals and Molecular Changes:

  • Studies on FGFR2 have explored the molecular signals and changes that occur within cells due to altered FGFR2 protein function.
  • These articles provide insights into the signaling pathways and molecular mechanisms underlying the role of FGFR2 in various diseases.

Additional Resources:

  • The PubMed database is a valuable resource for finding additional articles and references on the FGFR2 gene and its associated health conditions.
  • Researchers and healthcare professionals can utilize PubMed to access a wide range of scientific literature on this topic.

In conclusion, the FGFR2 gene is a critical gene involved in various health conditions, including craniofacial malformations, cancers, and genetic syndromes. Scientific articles published on PubMed provide valuable insights into the molecular basis and clinical aspects of these disorders, allowing for better understanding and management of patients with FGFR2 gene-related conditions.

Catalog of Genes and Diseases from OMIM

The FGFR2 gene codes for a protein that is involved in cell signaling and plays a crucial role in the development and function of various tissues in the body. Mutations in this gene can lead to a variety of clinical conditions and malformations.

One of the well-known conditions related to FGFR2 gene mutations is Crouzon syndrome, which is a craniofacial condition characterized by craniosynostosis (the premature fusion of skull bones) and other facial malformations. Another condition linked to FGFR2 gene mutations is Apert syndrome, which also affects the growth and development of the head and central nervous system.

There are several scientific articles available on PubMed that discuss the changes and clinical problems associated with FGFR2 gene mutations. These articles provide valuable information on the molecular basis of these conditions and the alterations in cell signaling pathways that contribute to the development of various diseases.

A variant of the FGFR2 gene has also been identified in cases of gastric and cholangiocarcinoma, suggesting a potential role of this gene in cancer development and progression.

The FGFR2 gene is listed in the catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man), a comprehensive database that provides information on genetic disorders and their associated genes. OMIM is a valuable resource for clinicians and researchers seeking information on the genetic basis of various disorders.

Testing for FGFR2 gene mutations can be performed to confirm the diagnosis of specific conditions, especially in patients with clinical features consistent with Crouzon or Apert syndrome. Genetic testing can help identify alterations in the FGFR2 gene and guide appropriate management and treatment options.

References:

  1. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet. 1994;8(1):98-103. PubMed PMID: 7987398.
  2. Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9(2):165-172. PubMed PMID: 7719342.
  3. Angeli-Besson C, Nivelon-Chevallier A, Cusin V, et al. Clinicogenetic study of the Pfeiffer syndrome type with FGFR1 or FGFR2 mutations, and literature review. Am J Med Genet A. 2005;135(1):48-56. PubMed PMID: 15714517.

This article is based on information from scientific articles available for free on PubMed. Additional resources and information can be found on the OMIM website, a valuable registry for genes and diseases.

Gene and Variant Databases

In the field of craniofacial and skeletal health, understanding the genetic basis of conditions such as craniosynostosis and cholangiocarcinoma is critical. Gene and variant databases provide a valuable resource for researchers and clinicians to access information about the FGFR2 gene and its various variants.

The FGFR2 gene, or fibroblast growth factor receptor 2 gene, plays a critical role in craniofacial development and angiogenesis. Mutations in this gene can lead to syndromic craniosynostosis, a condition characterized by abnormally shaped skulls and facial malformations.

One such condition is Pfeiffer syndrome, which is caused by mutations in the FGFR2 gene. This genetic change leads to premature fusion of the cranial bones and characteristic facial features.

Other conditions, such as Apert syndrome, Jackson-Weiss syndrome, Crouzon syndrome, and Beare-Stevenson syndrome, are also related to mutations in the FGFR2 gene.

Gene and variant databases, such as dbSNP and OMIM, provide a comprehensive collection of information about genes and their associated variants. These databases contain data on the various genetic changes that can occur in the FGFR2 gene and their clinical significance.

Variant databases, such as ClinVar, aggregate data from multiple sources to provide a more comprehensive understanding of the genetic changes associated with FGFR2 and other related genes.

The molecular changes in the FGFR2 gene, including single nucleotide changes, insertions, and deletions, can alter the function of the FGFR2 receptor and its signaling pathways. These changes can affect cell division, angiogenesis, and other critical processes involved in craniofacial and skeletal development.

Gene and variant databases also contain information about other genes and variants associated with craniofacial and skeletal conditions. For example, mutations in genes such as FGFR1, FGFR3, and TWIST1 can cause similar conditions, highlighting the complex and interconnected nature of these disorders.

In addition to craniofacial conditions, gene and variant databases also provide information about the genetic basis of other diseases and cancers. For example, mutations in the FGFR2 gene have been implicated in breast, prostate, and gastric cancers.

Overall, gene and variant databases are valuable resources for researchers, clinicians, and patients alike. They provide up-to-date information about the FGFR2 gene and its variants, allowing for better understanding and management of craniofacial and skeletal conditions.

References

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