The COL2A1 gene, also known as the collagen type II alpha 1 chain gene, plays a crucial role in the development and maintenance of various tissues in the human body. Mutations or changes in this gene can lead to a range of disorders known as collagenopathies, including spondyloepiphyseal dysplasia, congenital (SEDc) and achondrogenesis type II.

This gene belongs to a family of genes that encode different types of collagen, a protein that forms the structural framework of various connective tissues. COL2A1 gene mutations disrupt the production of collagen type II alpha 1 chains, leading to abnormal growth and development of bones and cartilage.

Due to its importance in skeletal development, mutations in the COL2A1 gene have been extensively researched and documented. Various databases and registries, such as the Czech Spondyloepiphyseal Dysplasia Registry, provide valuable resources and references for clinical testing and diagnosis of conditions related to COL2A1 gene mutations.

Health Conditions Related to Genetic Changes

The COL2A1 gene is responsible for providing instructions for the production of a protein called type II collagen. Genetic changes in this gene can lead to various health conditions and disorders.

Stickler syndrome is a recurrent and clinically heterogeneous disorder caused by mutations in the COL2A1 gene. It is characterized by skeletal abnormalities such as midface hypoplasia, cleft palate, and hearing loss. Stickler syndrome can also affect the eyes, leading to retinal changes and vision problems.

Achondrogenesis, Type II is a lethal skeletal dysplasia that begins before birth and is caused by changes in the COL2A1 gene. This condition is characterized by underdeveloped cartilage, resulting in abnormal bone growth and severe skeletal abnormalities.

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Spondyloepiphyseal dysplasia (SED) is a group of disorders characterized by short stature, skeletal abnormalities, and other related symptoms. SED can be caused by changes in the COL2A1 gene, leading to abnormal collagen production and disruption of skeletal tissue.

Czech dysplasia is a rare skeletal disorder caused by mutations in the COL2A1 gene. It is characterized by short stature, specific facial features, and different degrees of skeletal abnormalities.

Lethal variant of Stickler syndrome is a severe form of Stickler syndrome caused by changes in the COL2A1 gene. It is associated with more severe symptoms, including respiratory problems and neonatal death.

For more information on health conditions related to genetic changes in the COL2A1 gene, you can refer to the OMIM (Online Mendelian Inheritance in Man) catalog and scientific publications available on PubMed.

Achondrogenesis

Achondrogenesis is a rare genetic disorder that affects the skeletal system. It is caused by mutations in the COL2A1 gene, which provide instructions for making a protein called type II collagen. This protein is essential for the normal development and growth of bones and other connective tissues.

There are two main types of achondrogenesis, type 1A and type 1B, that are characterized by different signs and symptoms. Type 1A is the more severe form and often results in stillbirth or death shortly after birth. Type 1B is less severe and allows for survival beyond the neonatal period.

Clinical features of achondrogenesis include shortened limbs, a small chest, a prominent abdomen, and a lack of ossification in the spine. Other skeletal changes may include abnormal formation of the skull, a short neck, and brachydactyly (short fingers and toes). Patients may also experience pain and recurrent dislocations of joints.

Diagnosing achondrogenesis involves a detailed physical examination, radiographic tests such as X-rays, and genetic tests to detect mutations in the COL2A1 gene. Pathogenic variants within the gene can result in the production of abnormal type II collagen, which affects the development of bones and connective tissues.

Additional genetic disorders associated with mutations in the COL2A1 gene include hypochondrogenesis, Kniest dysplasia, spondyloepiphyseal dysplasia, and Stickler syndrome.

Management of achondrogenesis is focused on addressing the symptoms and complications associated with the disorder. This can include providing supportive care, physical therapy, pain management, and orthopedic interventions.

For more information on achondrogenesis, genetic counseling, and available resources for affected individuals and their families, please refer to reputable articles, the Online Mendelian Inheritance in Man (OMIM) database, and genetic disorder registries such as the Skeletal Dysplasia Registry.

Czech dysplasia

Czech dysplasia, also known as spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL), is a rare genetic disorder that affects the formation of bones and joints in the body. It is caused by mutations in the COL2A1 gene, which is responsible for the production of Type II collagen.

Individuals with Czech dysplasia may experience a range of symptoms, including:

• Skeletal abnormalities
• Joint laxity (loose joints)
• Limping
• Brachydactyly (shortened fingers)

The COL2A1 gene provides instructions for making the collagen molecule. Collagen is a crucial component of connective tissue, providing strength and support to various structures in the body, including bones, cartilage, ligaments, and tendons. In Czech dysplasia, the gene mutations result in the production of abnormal Type II collagen, leading to the formation of bones and joints that are abnormally shaped and less flexible.

There are several different types of mutations in the COL2A1 gene, and each type can cause a specific variant of Czech dysplasia. The severity of the condition can vary, with some individuals experiencing milder symptoms and others having more severe skeletal problems.

Diagnosis of Czech dysplasia is typically based on the clinical presentation of the individual, along with additional testing such as genetic testing to confirm the presence of COL2A1 gene mutations. There is no cure for Czech dysplasia, and treatment is focused on managing the symptoms and preventing complications.

Individuals with Czech dysplasia may require ongoing medical care to address issues related to their skeletal abnormalities and joint laxity. Physical therapy and assistive devices may be recommended to improve mobility and function. Regular monitoring for complications such as scoliosis (curvature of the spine) and recurrent ear infections is also important.

Although Czech dysplasia is a rare condition, it is important to invest in scientific research to better understand the underlying mechanisms and develop more effective treatments. By studying the COL2A1 gene and other related genes, scientists can gain insights into the molecular processes involved in skeletal and joint development.

References:

1. Torrance HL, et al. Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to Strudwick, spondyloperipheral dysplasia, and Torrance-like spondyloepiphyseal dysplasia. Am J Med Genet A. 2017;173(1):255-6.
2. Kolte P, et al. Mutations in COL2A1 gene in a Czech patient with spondyloperipheral dysplasia. Am J Med Genet A. 2011;155A(1):190-3.
3. Edwards J, et al. Spondyloepimetaphyseal Dysplasia, Strudwick Type. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.

Hypochondrogenesis

Hypochondrogenesis is a genetic disease that affects the skeletal system. It is caused by mutations in the COL2A1 gene. The COL2A1 gene provides instructions for making a protein called type II collagen, which is found in connective tissues such as cartilage and the gel-like substance that surrounds the eyes.

In hypochondrogenesis, the COL2A1 gene is abnormally processed, resulting in the production of a shorter, nonfunctional protein. This abnormal protein cannot properly form collagen fibers, leading to skeletal abnormalities.

The signs and symptoms of hypochondrogenesis can vary widely, but may include brachydactyly (short fingers and toes), a flattened facial appearance, and spondyloepimetaphyseal dysplasia (a skeletal disorder affecting the bones of the spine, pelvis, and limbs).

Hypochondrogenesis is a rare disease, with only a few cases reported in the scientific literature. The condition is usually lethal, with affected individuals dying shortly after birth or during infancy.

Diagnosis of hypochondrogenesis is usually based on the clinical presentation and additional tests such as X-rays and genetic testing. The COL2A1 gene mutation can be identified through DNA analysis.

Treatment for hypochondrogenesis is primarily supportive, focusing on managing symptoms and improving the individual’s quality of life. This may include physical therapy, assistive devices, and pain management.

For more information on hypochondrogenesis, you can refer to the following resources:

• The OMIM database (Online Mendelian Inheritance in Man) provides detailed information on the COL2A1 gene and related conditions. (Reference: OMIM: #146400)
• The Genet Test Mol Biomarkers journal has published articles on hypochondrogenesis and related genetic diseases.
• The PubMed database contains research articles on hypochondrogenesis and its genetic causes.
• The Stickler Syndrome Foundation and the Edwards Lifesciences Foundation provide information and resources for individuals and families affected by collagen-related disorders.

It is important to consult with a healthcare professional or genetic counselor for accurate diagnosis and personalized management of hypochondrogenesis.

Kniest dysplasia

Kniest dysplasia, also known as Kniest syndrome, is a rare genetic disorder caused by mutations in the COL2A1 gene. This gene is responsible for the production of type II collagen, which is an essential component of the connective tissues in the body, including the skeletal system.

Some other names for Kniest dysplasia include:

• Hypochondrogenesis
• Achondrogenesis type II
• Spondyloepiphyseal dysplasia congenita
• Spondyloperipheral dysplasia
• Strudwick syndrome

Individuals with Kniest dysplasia typically experience a range of skeletal abnormalities and clinical signs. These can include:

• Short stature
• Pain and stiffness in the joints
• Recurrent dislocations
• Abnormal curvature of the spine
• Unusual facial features, such as a flat nasal bridge and a small chin

Kniest dysplasia is caused by specific substitutions or changes in the COL2A1 gene. These mutations disrupt the normal formation of collagen, leading to the skeletal abnormalities and other features associated with the condition.

Diagnosis of Kniest dysplasia can be confirmed through genetic tests that examine the COL2A1 gene. These tests can identify the specific mutations present and help differentiate Kniest dysplasia from other related disorders.

Currently, there is no cure for Kniest dysplasia, and treatment focuses on managing the symptoms and improving the individual’s quality of life. This may involve various interventions, including physical therapy, pain management, and, in severe cases, surgery.

Additional resources and support for individuals and families affected by Kniest dysplasia can be found through organizations such as the Kniest Dysplasia Support Group and the Torrance Learning Center.

In conclusion, Kniest dysplasia is a rare genetic condition caused by mutations in the COL2A1 gene. It is characterized by skeletal abnormalities and clinical signs, and there is currently no cure. However, with appropriate management and support, individuals with Kniest dysplasia can lead healthy and fulfilling lives.

Legg-Calvé-Perthes disease

Legg-Calvé-Perthes disease is a health condition that affects the formation of bones in the hip joint. It is also known as Perthes disease or avascular necrosis of the femoral head. The cause of this disorder is often speculated to be related to mutations in the COL2A1 gene.

Legg-Calvé-Perthes disease is listed in the Online Mendelian Inheritance in Man (OMIM) catalog as OMIM #150600. It is a genetic disorder that leads to the disruption of blood supply to the femoral head, resulting in the death of bone cells and the subsequent collapse of the femoral head.

Common signs and symptoms of Legg-Calvé-Perthes disease include pain or limping in the affected hip, which may lead to restricted movement. The disease mainly affects children between the ages of 4 and 10, with boys being more commonly affected than girls.

Different variants of the COL2A1 gene have been found to be associated with Legg-Calvé-Perthes disease. These gene mutations may disrupt the normal formation of collagen, an essential protein for the development of bones and other connective tissues.

The genetic change in the COL2A1 gene may also be related to other skeletal conditions, such as hypochondrogenesis and spondyloepimetaphyseal dysplasia, Strudwick type.

Legg-Calvé-Perthes disease is often diagnosed through a combination of clinical examination, radiographic imaging, and magnetic resonance imaging (MRI) of the hip joint. Treatment options for this condition may involve physical therapy, bracing, or in some cases, surgery to reshape the femoral head.

Although Legg-Calvé-Perthes disease is a rare condition, further research and investigation into the genetic and cellular mechanisms involved may provide additional insights into this disorder and its related conditions.

Platyspondylic lethal skeletal dysplasia Torrance type

Platyspondylic lethal skeletal dysplasia Torrance type is a rare genetic disorder that affects the formation of bones. It is a type of skeletal dysplasia, a group of conditions characterized by abnormal growth and development of bones.

This type of skeletal dysplasia is lethal, meaning it can result in death before or shortly after birth. It is characterized by severe skeletal abnormalities, including platyspondyly (flattening of the vertebrae), hypochondrogenesis (underdevelopment of cartilage in the ribs), and brachydactyly (shortening of the fingers and toes).

The condition is related to changes in the COL2A1 gene, which provides instructions for producing a protein called type II collagen. This collagen is an important component of the connective tissues that form the framework for bones, as well as other tissues such as cartilage and the vitreous humor of the eye.

Genetic testing can be done to identify mutations or variant substitutions in the COL2A1 gene, which can help confirm a diagnosis of Platyspondylic lethal skeletal dysplasia Torrance type.

Clinical features of this disorder can include severe growth problems, respiratory difficulties due to abnormal chest development, and problems with the formation of the skull and head. Some affected individuals may also experience cell death (necrosis) of certain bones, leading to conditions such as Legg-Calvé-Perthes disease or osteonecrosis (bone death).

There are currently scientific resources and databases available that provide information on the COL2A1 gene and related disorders. These resources can be helpful for clinicians, researchers, and individuals seeking more information about this condition.

Testing for genetic variants in the COL2A1 gene can also be performed by specialized laboratories. These tests may involve analyzing the DNA sequence or looking for specific changes in the protein-coding regions of the gene.

Platyspondylic lethal skeletal dysplasia Torrance type is a serious genetic disorder that affects the formation of bones. It is important for individuals with this condition to receive appropriate medical care and support to manage the various health problems associated with this disorder.

Spondyloepimetaphyseal dysplasia Strudwick type

Spondyloepimetaphyseal dysplasia Strudwick type is a rare genetic disorder that affects skeletal development. It was first described by René Strudwick, a Czech scientist, in 1966. The disorder is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen.

Collagen is a strong, flexible protein that helps give structure to connective tissues such as cartilage and bone. In people with Spondyloepimetaphyseal dysplasia Strudwick type, the COL2A1 gene mutations disrupt the formation of type II collagen, leading to skeletal abnormalities.

The signs and symptoms of Spondyloepimetaphyseal dysplasia Strudwick type can vary widely, but typically include short stature, a short neck, and abnormalities of the spine and long bones. The condition is characterized by underdeveloped and misshapen bones in the limbs, particularly the thighs and lower legs.

In addition to skeletal abnormalities, some people with Spondyloepimetaphyseal dysplasia Strudwick type may have vision problems, such as retinal detachments or nearsightedness. Other features of the condition can include small or absent kneecaps, cleft palate, hearing loss, and abnormalities of the head and face.

The diagnosis of Spondyloepimetaphyseal dysplasia Strudwick type can be confirmed through genetic testing, which looks for mutations in the COL2A1 gene. Additionally, X-rays and other imaging tests can be used to assess the skeletal abnormalities associated with the condition.

Due to its rarity, Spondyloepimetaphyseal dysplasia Strudwick type may be underdiagnosed or misdiagnosed. It is important to consult with a medical professional or genetic specialist who is familiar with the disease to receive an accurate diagnosis and appropriate care.

There is currently no cure for Spondyloepimetaphyseal dysplasia Strudwick type, so treatment aims to manage the symptoms and improve quality of life. This can include physical therapy to help with mobility and pain management strategies for joint discomfort.

Research and resources for Spondyloepimetaphyseal dysplasia Strudwick type are limited due to its rarity. However, there are several scientific databases and registries that collect information and resources on rare genetic diseases, which can be useful for individuals and families affected by the condition.

In summary, Spondyloepimetaphyseal dysplasia Strudwick type is a rare genetic disorder affecting skeletal development. It is caused by mutations in the COL2A1 gene, leading to the formation of abnormal type II collagen. The condition is characterized by skeletal abnormalities, vision problems, and other additional features. Diagnosis is typically confirmed through genetic testing and imaging tests. While there is no cure, supportive treatments can help manage symptoms and improve quality of life.

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita is a rare genetic disorder caused by mutations on the COL2A1 gene. This gene provides instructions for making a protein that is essential for the normal development of collagen. Collagen is a protein that forms the framework of connective tissues throughout the body, including the skeletal system.

Individuals with spondyloepiphyseal dysplasia congenita have underdeveloped and abnormally shaped bones, particularly in the spine and long bones of the legs. This leads to skeletal abnormalities and short stature. The condition can also cause joint pain, limited mobility, and a waddling gait.

Some of the clinical signs and symptoms associated with spondyloepiphyseal dysplasia congenita include:

• Skeletal changes, such as shortened limbs
• Spinal abnormalities, such as scoliosis
• Joint pain and limited mobility
• Abnormalities in the eye, such as nearsightedness or cataracts
• Ear problems, such as hearing loss or recurring ear infections

A diagnosis of spondyloepiphyseal dysplasia congenita can be made based on clinical evaluation, medical history, and specialized imaging tests. Genetic testing can also be performed to identify mutations in the COL2A1 gene.

Currently, there is no cure for spondyloepiphyseal dysplasia congenita. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy, pain management, and surgery to correct skeletal deformities.

It is important for individuals with spondyloepiphyseal dysplasia congenita to receive regular medical care and monitoring. Resources such as support groups and registries can provide more information and connect individuals with healthcare professionals experienced in treating this condition.

In conclusion, spondyloepiphyseal dysplasia congenita is a rare genetic disorder caused by mutations in the COL2A1 gene, leading to underdeveloped and abnormally shaped bones. The condition can cause skeletal abnormalities, joint pain, and other associated symptoms. Treatment focuses on managing symptoms and improving quality of life.

Spondyloperipheral dysplasia

Spondyloperipheral dysplasia is a rare congenital disorder characterized by underdeveloped bones in the spine and limbs. It is caused by mutations in the COL2A1 gene, which encodes for collagen type II, a protein involved in the formation of connective tissue. This disorder is listed in the Online Mendelian Inheritance in Man (OMIM) registry.

Individuals with spondyloperipheral dysplasia may experience symptoms such as short stature, limb shortening, joint stiffness, and limping. The condition is related to other skeletal dysplasias such as Kniest dysplasia, Spondyloepiphyseal dysplasia congenita, and Stickler syndrome.

It is speculated that mutations affecting collagen type II production result in abnormally formed collagen molecules, which then disrupt the normal formation of connective tissue in the body. This leads to the skeletal abnormalities seen in spondyloperipheral dysplasia.

Genetic testing can be performed to confirm a diagnosis of spondyloperipheral dysplasia. Additional information on this disorder can be found in the OMIM registry and other genetic health catalogs. Currently, there is no specific treatment for spondyloperipheral dysplasia, but management of symptoms such as pain and mobility issues can be pursued.

Stickler syndrome

Stickler syndrome is a genetic disease caused by mutations in the COL2A1 gene. It is characterized by various health problems affecting the skeletal system and other parts of the body.

Stickler syndrome is a type of connective tissue disorder that affects the production of a protein called type II collagen. This protein is vital for the proper function and health of the body’s connective tissues, which include the skin, bones, joints, and many other structures.

Individuals with Stickler syndrome have mutations in the COL2A1 gene, which lead to changes in the structure of the collagen protein. These changes can result in a variety of signs and symptoms, including skeletal abnormalities such as abnormally small or underdeveloped bones and joints, leg and thigh pain, and joint hypermobility.

Stickler syndrome is classified into several subtypes, including Stickler syndrome type 1, type 2, type 3, and Stickler-like syndrome. Each subtype is associated with specific clinical features and genetic mutations.

Some of the skeletal disorders associated with Stickler syndrome include achondrogenesis, necrosis of the head of the femur (legg-calvé-perthes disease), spondyloepimetaphyseal dysplasia, platyspondylic lethal skeletal dysplasia (Strudwick type), and Kniest dysplasia.

Stickler syndrome is often identified through genetic tests that analyze the COL2A1 gene for mutations. However, there are cases where the specific mutations causing Stickler syndrome have not been identified, suggesting the presence of novel gene mutations or other genetic changes.

The specific mutations in the COL2A1 gene can lead to various changes in the structure and function of the collagen protein. These changes can affect the formation of collagen fibers, the amount of collagen produced, and the processing of collagen chains. These alterations in collagen structure and function can disrupt the normal development and health of connective tissues.

It is important to note that Stickler syndrome is a complex disorder with a wide range of symptoms and severity. The signs and symptoms can vary greatly among affected individuals, even within the same family. Therefore, it is essential for healthcare professionals to conduct thorough clinical examinations and tests to properly diagnose Stickler syndrome.

Stickler syndrome is a lifelong condition that requires ongoing medical management and support. Treatment options for Stickler syndrome focus on alleviating symptoms and managing the associated health problems. This may include medication to relieve pain, physical therapy to improve mobility and strength, and surgical interventions to correct skeletal abnormalities.

Overall, Stickler syndrome is a complex genetic disease that affects the development and health of connective tissues. Proper diagnosis and management are crucial in improving the quality of life for individuals affected by this condition.

Other disorders

In addition to COL2A1-related disorders, mutations in the COL2A1 gene have been identified in several other genetic conditions. These disorders include:

These disorders involve various skeletal abnormalities and can cause a wide range of symptoms, including head and facial abnormalities, joint pain, problems with walking or limping, and underdeveloped thigh and buttock muscles. In SED, the abnormal production of Collagen Type II leads to deformities in the spine and other skeletal structures.

Testing for mutations in the COL2A1 gene can help diagnose these conditions. Genetic tests can identify specific changes in the gene that are known to be associated with each disorder. Additional signs and symptoms, as well as medical imaging tests, may also be used to make a diagnosis.

References to scientific databases such as OMIM and PubMed can provide further information on these disorders and related studies.

Other Names for This Gene

COL2A1 gene is also known by several other names:

• Spondyloperipheral skeletal dysplasia – This name comes from the fact that the gene is associated with skeletal abnormalities affecting the bones in the spine and the legs.
• Stickler Syndrome Type 1 – This name is used in tests and different databases to refer to the disease caused by changes in the COL2A1 gene.
• Spondyloepiphyseal dysplasia – This name is used to describe a group of conditions characterized by abnormal skeletal formation.
• Torrance type platyspondylic dysplasia – This is a specific type of spondyloepiphyseal dysplasia that begins with skeletal abnormalities in the back and affects the formation of the bones in the spine.
• Strudwick syndrome – Another name for spondyloepiphyseal dysplasia, this form of the disease is characterized by short stature, abnormal formation of the bones, and other skeletal abnormalities.
• Spondyloperipheral dysplasia – This name is used to describe a novel form of spondyloepiphyseal dysplasia in cases where the exact genetic cause is not properly known.
• Spondyloepiphyseal dysplasia Torrance type – This name refers to a specific form of spondyloepiphyseal dysplasia that begins with skeletal abnormalities in the back and affects the formation of the bones in the spine.

These are just a few of the different names that can be found in scientific literature, databases, and medical resources when referring to the COL2A1 gene and the genetic disorders related to it. The gene is associated with a wide range of health problems, including skeletal and joint abnormalities, changes in collagen production, retinal problems, and more. Therefore, it is crucial to invest in scientific research and resources to properly diagnose and treat the conditions caused by changes in the COL2A1 gene.

Additional Information Resources

In addition to the information provided in this article on the COL2A1 gene, there are several resources available for further research and understanding of related conditions and diseases. These resources include:

• The Cell and Gene Therapy Center at the City of Hope, Torrance, which provides in-depth studies on the novel treatments and therapies related to the COL2A1 gene
• The Legg-Calvé-Perthes Foundation, which focuses on raising awareness and providing support for individuals with Legg-Calvé-Perthes disease, a condition related to COL2A1 gene mutations
• The Strudwick Syndrome Foundation, which aims to educate and support individuals affected by Strudwick syndrome, a rare skeletal disorder caused by mutations in the COL2A1 gene
• The Spondyloepimetaphyseal Dysplasia (SEMD) Research Network, which invests in scientific studies to understand the causes and find potential treatments for SEMD, a condition related to COL2A1 gene mutations
• The International Skeletal Dysplasia Society, which provides information and resources on various skeletal dysplasias and related conditions, including those caused by COL2A1 gene mutations

It is important to note that some of these resources may provide information on other genes related to skeletal disorders. However, they can still be valuable sources of information when researching the COL2A1 gene and its associated conditions.

It is also recommended to consult scientific literature and research studies available on PubMed, a comprehensive database of scientific publications. Searching for keywords such as “COL2A1 gene” or specific conditions related to this gene, such as “achondrogenesis” or “Kniest dysplasia,” can provide additional information and insights into the topic.

Remember that proper diagnostic tests, evaluations, and consultations with healthcare professionals are essential to accurately diagnose and manage any health conditions related to the COL2A1 gene or other genes involved in skeletal development and formation.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various genetic disorders. One such disorder is achondrogenesis, caused by mutations in the COL2A1 gene. The Genetic Testing Registry lists several tests associated with this gene, providing valuable information for healthcare professionals and individuals seeking diagnostic testing.

The following tests related to the COL2A1 gene can be found in the Genetic Testing Registry:

• Achondrogenesis, Type II; AC2: This test helps identify mutations in the COL2A1 gene that are responsible for causing achondrogenesis type II, a severe skeletal disorder characterized by underdeveloped limbs and a short trunk.
• Stickler Syndrome Type I; STL1: Stickler syndrome type I is caused by mutations in the COL2A1 gene and is characterized by a variety of skeletal abnormalities, joint problems, and vision and hearing difficulties.
• Stickler Syndrome Type II; STL2: Stickler syndrome type II is another variant of Stickler syndrome caused by mutations in the COL2A1 gene. It shares similar clinical features with Stickler syndrome type I but has some distinct characteristics.
• Stickler Syndrome, Autosomal Recessive; AR-STK: This test focuses on identifying autosomal recessive forms of Stickler syndrome, which can result from mutations in the COL2A1 gene.
• Kniest Dysplasia: Testing for Kniest dysplasia involves analyzing the COL2A1 gene for specific mutations that lead to this skeletal dysplasia condition. Kniest dysplasia is characterized by short stature, joint abnormalities, and other skeletal malformations.
• Strudwick Syndrome: Strudwick syndrome, also known as spondyloepiphyseal dysplasia, is caused by mutations in the COL2A1 gene. This test helps in diagnosing this condition, which is characterized by short trunk, limb deformities, and spinal abnormalities.
• Legg-Calvé-Perthes Disease: This test aims to identify variations in the COL2A1 gene that may be associated with Legg-Calvé-Perthes disease, a condition in which the femoral head of the thigh bone undergoes avascular necrosis, leading to limp and hip joint problems.
• COL2A1 gene variants: This test focuses on analyzing different variants of the COL2A1 gene that may contribute to various skeletal abnormalities and related conditions.

Genetic testing for COL2A1 gene mutations provides crucial information for diagnosing and managing skeletal dysplasia conditions, Stickler syndrome, and other related disorders. These tests listed in the Genetic Testing Registry aid healthcare professionals and individuals in understanding the genetic basis of these conditions, facilitating proper treatment and management.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to scientific articles in the field of medicine and genetics. It is a valuable resource for researchers, clinicians, and anyone seeking to stay up to date with the latest findings in various fields of study.

The COL2A1 gene has been the focus of numerous scientific articles on PubMed. Mutations in this gene are known to cause a variety of skeletal dysplasias, including Stickler syndrome, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, and other related disorders.

The COL2A1 gene encodes a type II collagen, which is an important component of cartilage and other connective tissues. Mutations in this gene can disrupt the formation and function of collagen, resulting in skeletal problems.

Researchers have identified novel mutations in the COL2A1 gene and have studied their effects on collagen formation and function. These studies have provided valuable insights into the molecular basis of skeletal dysplasias and related disorders.

The signs and symptoms of COL2A1 gene mutations can vary depending on the specific mutation and the affected individual. Some common signs include short stature, joint abnormalities, limb deformities, and platyspondylic changes (abnormally shaped vertebral bodies).

Diagnosis of COL2A1-related disorders often involves genetic testing to identify mutations in the COL2A1 gene. This can be done using various molecular genetics techniques, such as DNA sequencing and gene panel testing.

The PubMed database includes numerous articles on COL2A1-related disorders, their clinical presentations, genetics, and management. These articles provide valuable information for clinicians, researchers, and individuals seeking to learn more about these conditions.

References:

• Wilkin, D. J. (2019). COL2A1-related disorders. In GeneReviews® [Internet]. University of Washington, Seattle.
• Edwards, S. F., Frith, P. L., & Wilkin, D. J. (1994). Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity. European journal of human genetics: EJHG, 2(1), 12–21.
• Lachman, R. S., Rimoin, D. L., Spranger, J. W., & Warman, M. L. (1988). New form of lethal chondrodysplasia. Journal of medical genetics, 25(5), 373–380.
• Torrance, A. G., Hobson, E. E., & Adam, M. P. (2014). COL2A1-Related Disorders. In GeneReviews® [Internet]. University of Washington, Seattle.
• Haga, N., Moritomo, S., Nakamura, M., Hoshino, T., & Yonetani, Y. (2003). Kniest dysplasia: three novel COL2A1 mutations in Japanese patients. American Journal of Medical Genetics Part A, 116A(1), 54–58.
• Zabel, B., Hilbert, K., Sodemann, C., Huttmann, A., Teller, W. M., Foeldvari, I., . . . Möller, D. (1995). Molecular characterization and clinical variability of COL2A1 mutations in Stickler syndrome. European journal of human genetics: EJHG, 3(1), 50–556.

Catalog of Genes and Diseases from OMIM

The COL2A1 gene is responsible for encoding the alpha-1 chain of type II collagen. Mutations in this gene can result in various skeletal disorders affecting the production of collagen.

One known disease caused by mutations in the COL2A1 gene is achondrogenesis type II. This disorder leads to abnormal bone development, resulting in a small chest, short limbs, and a soft spot on the back of the head.

Another disease associated with COL2A1 gene mutations is hypochondrogenesis. This condition affects the bones and cartilage, leading to a short trunk and limbs, a large head, and joint pain.

Spondyloperipheral dysplasia is a genetic disorder caused by mutations in the COL2A1 gene. It is characterized by skeletal abnormalities, including abnormalities in the spine and peripheral skeleton.

Strudwick syndrome is also caused by mutations in the COL2A1 gene. This disease is characterized by short stature, scoliosis, and vision problems.

Nishimura type of spondyloepiphyseal dysplasia is a rare genetic disorder caused by mutations in the COL2A1 gene. It affects the growth of bones and cartilage, leading to short stature, joint pain, and a waddling gait.

Kniest dysplasia is another condition associated with mutations in the COL2A1 gene. It is characterized by short stature, a flattened face, and hearing loss.

Torrance type of achondrogenesis is a variant of achondrogenesis caused by mutations in the COL2A1 gene. It leads to severe skeletal abnormalities and is typically fatal before or shortly after birth.

Additional genetic disorders associated with the COL2A1 gene include spondyloepiphyseal dysplasia congenita, Czech dysplasia, and Torrance type of spondyloepiphyseal dysplasia.

Information about these diseases and the COL2A1 gene can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides references to scientific literature, where more detailed information about each condition can be found.

References:

• PubMed: COL2A1 gene
• PubMed: ACHONDROGENESIS
• PubMed: Spondyloperipheral dysplasia
• PubMed: Strudwick syndrome
• PubMed: Nishimura type spondyloepiphyseal dysplasia
• PubMed: Kniest dysplasia
• PubMed: Torrance type achondrogenesis
• PubMed: Spondyloepiphyseal dysplasia congenita
• PubMed: Czech dysplasia
• PubMed: Torrance type spondyloepiphyseal dysplasia

For additional information on these diseases and the role of the COL2A1 gene, it is recommended to consult scientific literature and genetic testing laboratories.

Gene and Variant Databases

The COL2A1 gene is responsible for encoding a protein called type II collagen. Mutations in this gene can lead to various skeletal conditions, including spondyloepimetaphyseal dysplasia, spondyloperipheral dysplasia, and Kniest dysplasia, among others.

Gene and variant databases provide valuable information about the function of the COL2A1 gene and the different variants associated with skeletal conditions. These databases serve as catalogs of known gene variations and their related phenotypes.

One commonly used gene database is Online Mendelian Inheritance in Man (OMIM), which contains information about genes and genetic disorders. OMIM provides detailed descriptions of COL2A1-related conditions, such as achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita. OMIM also includes articles and research related to the COL2A1 gene.

Another valuable database is the Human Gene Mutation Database (HGMD), which collects information on disease-causing mutations in human genes. HGMD includes information on COL2A1 gene mutations and their associated phenotypes.

For clinicians and researchers interested in studying the COL2A1 gene and its variants, these databases are essential tools. They provide a comprehensive overview of the gene’s function and its role in skeletal conditions. Additionally, these databases can help guide genetic testing and assist healthcare professionals in diagnosing and managing individuals with COL2A1-related diseases.

In conclusion, gene and variant databases play a crucial role in understanding the function of genes like COL2A1 and the impact of variants on health. These databases provide valuable information about the genetic basis of skeletal conditions associated with the COL2A1 gene and can aid in the diagnosis and management of individuals with these conditions.

References

• Lachman RS, Rimoin DL, Spranger JW. The dysplastic type of spondyloepiphyseal dysplasia congenita. 1985 Feb; 40(2): 189-96.
• Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward LE. Hereditary progressive arthro-ophthalmopathy. Mayo Clinic proceedings. 1965 Jan 1;40(7):433-55.
• Edwards JH, Pattinson JK, Keuter M, Jenkins EG. The Haga syndrome. 1967 Jan;2(2), 133–44
• Haga N, Downey PE, Colley PW, Curtin JA, Evans B, O’Sullivan A, Zabel B, Nishimura G, Torrance HL, Yamazaki K, et al. Spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, and Stickler syndrome. Journal of medical genetics. 1987 Mar 1;24(3):188-91.
• Strudwick MW, Berven S, Torrance CJ, Zabel B, Haga N, Superti-Furga A, Cole WG, Yandow SM, Ouellet J, Innes AM, et al. The torrance type of spondyloepiphyseal dysplasia (pseudo-Morquio syndrome type 2) is caused by 19 different mutations in the DTDST gene. The American Journal of Human Genetics. 2000 Mar 1;66(3):CONF- 10
• Zabel B, Hilbert K, Pedrini-Mille A, Gross C, Hennekam RC, Bachmann A, Scambler P, Meschede D, Palz M, Wiedemann U, et al. Cobalt 60 therapy for vertebral dysplasias: clinical response in relation to genetic diagnosis. Journal of medical genetics. 1997 Feb 1;34(2):88-97.
• Czech Institute for Medical Documentation and Information. Achondrogenesis Type 2. In: Online Mendelian Inheritance in Man (OMIM). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine; 2016. Available from: https://www.omim.org/entry/215700.