Pendred syndrome

Pendred syndrome is a rare genetic condition that is typically associated with hearing loss and thyroid problems. It is named after Vaughan Pendred, the British physician who first described the syndrome in 1896. Pendred syndrome is characterized by the impaired function of the pendrin protein, which is encoded by the SLC26A4 gene.

Patients with Pendred syndrome often have congenital hearing loss, which can range from mild to profound. In addition, they may develop goiter, an enlargement of the thyroid gland, which can cause various symptoms such as difficulty swallowing and breathing. The inheritance of Pendred syndrome follows an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to be affected.

Genetic testing can help confirm the diagnosis of Pendred syndrome and identify the specific mutations in the SLC26A4 gene. This information is useful for genetic counseling, as it helps determine the likelihood of passing the condition on to future children. In addition, genetic testing can also provide information about the clinical management of Pendred syndrome and the associated hearing and thyroid problems.

There are several resources available for patients and families affected by Pendred syndrome. The Pendred Syndrome and Nonsyndromic Hearing Loss Clinic, located at the National Institutes of Health (NIH), provides information, support, and advocacy for individuals with Pendred syndrome and related conditions. The OMIM (Online Mendelian Inheritance in Man) database and the PubMed website offer additional references, articles, and scientific studies about Pendred syndrome and the genes associated with it.

Frequency

Pendred syndrome is a rare genetic condition with an estimated frequency of 1 in 8,000 to 1 in 10,000 individuals worldwide. It is more commonly seen in people of European descent, but cases have been reported in other populations as well.

Research and clinical studies have associated the condition with mutations in the SLC26A4 gene, which provides instructions for making a protein called pendrin. Pendrin plays a crucial role in the transport of ions, particularly iodide, in the thyroid gland.

Most individuals with Pendred syndrome have some degree of hearing loss, which is typically present at birth or develops in early childhood. The severity of the hearing loss can vary among affected individuals.

In addition to hearing loss, individuals with Pendred syndrome may also have an enlarged thyroid gland (goiter) or an abnormal thyroid function. These thyroid-related symptoms usually become apparent during late childhood or adulthood.

The inheritance pattern of Pendred syndrome is typically autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. However, rare cases of Pendred-like syndrome with autosomal dominant inheritance have also been reported.

Genetic testing can help confirm the diagnosis of Pendred syndrome by identifying mutations in the SLC26A4 gene. However, it is important to note that not all individuals with Pendred-like symptoms will have mutations in this gene.

Information about clinical trials and genetic testing for Pendred syndrome can be found on resources such as ClinicalTrials.gov, OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide additional information about the condition and may help with finding a research center or advocacy/support group.

It is important for individuals with Pendred syndrome and their families to receive appropriate medical care and support. This may include regular monitoring of hearing and thyroid function, as well as access to resources and support from advocacy organizations and patient-centered communities.

Causes

The Pendred syndrome is a genetic condition that is often associated with mutations in the SLC26A4 gene. This gene provides instructions for making a protein called pendrin, which is involved in the regulation of ions in the body. Mutations in SLC26A4 gene can result in a defective pendrin protein, causing dysfunction in its ion-regulating function.

These genetic mutations are found with varying frequency in different populations. In some populations, such as the Japanese and Korean populations, the SLC26A4 gene mutations are more common and are a frequent cause of Pendred syndrome. In other populations, the mutations are relatively rare.

The inheritance pattern of Pendred syndrome is usually autosomal recessive, which means that an affected individual inherits two copies of the mutated gene, one from each parent. In some cases, the syndrome can also be inherited in an autosomal dominant manner, where only one copy of the mutated gene is required to develop the condition.

Genetic testing can be used to identify mutations in the SLC26A4 gene, which can help confirm a diagnosis of Pendred syndrome. It can also be used for carrier testing and prenatal diagnosis for families with a history of the condition.

Additionally, there is ongoing research to identify other genes that may be associated with Pendred syndrome, as well as other related thyroid conditions. The clinicaltrials.gov and OMIM databases can provide more information about current studies and available resources for genetic testing.

For patients and their families, support and advocacy groups can provide more information and resources about Pendred syndrome. These groups often have small catalogs of articles, patient stories, and other scientific references to help individuals learn more about the causes, symptoms, and management of Pendred syndrome.

In summary, Pendred syndrome is a rare genetic condition typically caused by mutations in the SLC26A4 gene. These mutations result in dysfunction of the pendrin protein, leading to impaired regulation of ions in the body. Genetic testing can confirm a diagnosis, and ongoing research aims to identify additional genes associated with the syndrome. Support and advocacy groups provide resources and information for patients and their families.

Learn more about the gene associated with Pendred syndrome

Pendred syndrome is a rare genetic condition that affects the function of the thyroid. It is typically characterized by hearing loss and an enlarged thyroid gland. One of the genes associated with Pendred syndrome is called the SLC26A4 gene, which provides instructions for making a protein called pendrin.

Pendrin is an ion transporter that helps move iodide, chloride, and other ions in and out of cells. This process is important for the production of thyroid hormones, which play a key role in the body’s metabolism and growth. Mutations in the SLC26A4 gene can disrupt the function of pendrin, leading to the development of Pendred syndrome.

To learn more about the SLC26A4 gene and Pendred syndrome, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the SLC26A4 gene and its association with Pendred syndrome.
  • PubMed: PubMed is a database of scientific articles that includes studies and research on the genetic causes and clinical features of Pendred syndrome.
  • Genetic Testing: Genetic testing for the SLC26A4 gene can help diagnose Pendred syndrome and provide information about the inheritance pattern of the condition.
  • ClinicalTrials.gov: This resource provides information on current clinical trials and research studies related to Pendred syndrome and other genetic conditions.
  • Patient Advocacy Resources: There are several advocacy organizations that offer support and resources for individuals and families affected by Pendred syndrome. These organizations can provide additional information and support.

By learning more about the genes associated with Pendred syndrome, you can better understand the underlying causes of this rare condition and explore potential treatment options.

Inheritance

Pendred syndrome is an inherited genetic condition typically associated with mutations in the SLC26A4 gene. This gene encodes a protein called pendrin, which is responsible for the function of anion transport in the body. Pendred syndrome is also known by other names, such as thyroid hormone synthesis defect 4 and DFNB4.

The inheritance pattern of Pendred syndrome is autosomal recessive, which means that individuals with this condition have two copies of the mutated gene, one from each parent. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that their child will inherit the condition. Carrier testing can be done to determine if a person carries one copy of the mutated gene.

Additional resources and support for patients and families affected by Pendred syndrome can be found through organizations such as the Pendred Syndrome and Deafness Advocacy and Research Foundation and the National Center for Advancing Translational Sciences Genetic and Rare Diseases Information Center. These resources provide information on the genetic causes of the syndrome, clinical trials, genetic testing, and more.

For more scientific information on Pendred syndrome, research articles can be found on websites such as PubMed and OMIM, which catalog genetic conditions and provide references to research studies and articles. These resources can help individuals learn more about the syndrome, associated genes, and the function of pendrin in the body.

See Also:  Mitochondrial complex I deficiency

In summary, Pendred syndrome is a rare genetic condition typically associated with mutations in the SLC26A4 gene. It is inherited in an autosomal recessive manner and is often associated with hearing loss and thyroid disorders. More research and testing are needed to better understand the frequency of this condition and its association with other genetic conditions.

Other Names for This Condition

  • Pendred syndrome
  • Nonsyndromic enlarged vestibular aqueduct syndrome
  • Nonsyndromic deafness and goiter
  • Goiter-deafness syndrome
  • Deafness with goiter
  • GDS
  • PDS

Pendred syndrome, also known as nonsyndromic enlarged vestibular aqueduct syndrome or goiter-deafness syndrome, is a rare genetic condition. It is characterized by hearing loss and goiter, which is an enlargement of the thyroid gland. This syndrome is caused by mutations in the SLC26A4 gene, which codes for the pendrin protein. Pendrin plays a role in the transport of ions from the inner ear, thyroid, and other organs. The exact function of pendrin is still under research.

In most cases, the inheritance of Pendred syndrome follows an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to be affected. However, there have been reports of Pendred syndrome cases with other inheritance patterns, such as autosomal dominant or mitochondrial.

Treatment for Pendred syndrome is focused on managing the symptoms and complications associated with the condition. This may include thyroid hormone replacement therapy, hearing aids or cochlear implants for hearing loss, and regular monitoring of thyroid function.

For more information about Pendred syndrome, genetic testing, and support resources, visit the Pendred Syndrome Information Center, OMIM database, PubMed articles, or clinicaltrials.gov. These resources provide additional information on the causes, clinical features, and frequency of this rare genetic condition.

References:

  1. Reardon, W., & Trembath, R. (1995). Pendred syndrome. Journal of Medical Genetics, 32(9), 705–710.
  2. Everett, L. A., & Green, E. D. (1999). Pendred syndrome. In GeneReviews®. University of Washington, Seattle.
  3. Scott, D. A., & Wang, R. (2017). The expanding and unexpected functions of the Pendred syndrome gene SLC26A4/PDS. Endocrine Reviews, 38(5), 440–470.

Additional Information Resources

When it comes to Pendred syndrome, there are various resources available for additional information, testing, and support. Here are some key resources to help you learn more about this rare condition:

  • Genetic Testing: Genetic testing is the most reliable way to diagnose Pendred syndrome. It can help identify the specific gene mutations associated with the condition. Genetic testing can be done through specialized laboratories and often requires a blood or saliva sample.

  • Patient Advocacy Groups: Patient advocacy groups are organizations that provide support and resources for individuals and families affected by Pendred syndrome. These groups typically offer information, educational materials, and support networks to connect with others going through similar experiences.

  • Clinical Trials: Research studies and clinical trials are conducted to further understand the causes, function, and treatment options for Pendred syndrome. ClinicalTrials.gov is a reliable website that provides information about ongoing clinical trials related to Pendred syndrome.

  • Scientific Articles and Research: Scientific articles and research publications can provide in-depth information about the genetic and clinical aspects of Pendred syndrome. PubMed and OMIM (Online Mendelian Inheritance in Man) are databases that contain a vast collection of research articles, studies, and references related to this condition.

  • Genetic Centers: Genetic centers specialize in the diagnosis and management of genetic conditions, including Pendred syndrome. They have expert clinicians and genetic counselors who can provide comprehensive genetic testing, counseling, and support for individuals and families affected by this condition.

These resources can help you better understand Pendred syndrome and provide you with the necessary information and support you need to manage this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing Pendred syndrome. The information obtained through genetic testing can aid in identifying the specific genetic mutations associated with this condition. Here is some valuable information on genetic testing for Pendred syndrome:

  • Articles and Studies: Numerous articles and studies have been published on Pendred syndrome. These publications provide insights into the genetic causes, inheritance patterns, and clinical manifestations of the condition. PubMed is a reliable online database that hosts scientific articles related to this topic.
  • OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog contains detailed information about genetic disorders. It includes a comprehensive entry on Pendred syndrome, which highlights the associated genes, genetic function, clinical features, and more.
  • Genetic Testing Resources: Several resources are available for individuals interested in genetic testing for Pendred syndrome. These resources include specialized genetic testing centers and advocacy organizations that offer support and information.
  • Patient Support: Patients who have been diagnosed with Pendred syndrome can find additional information and support through patient advocacy groups. These organizations often provide educational materials, resources, and community forums for individuals affected by the condition.
  • Clinical Trials: ClinicalTrials.gov is a platform that lists ongoing clinical trials related to genetic disorders. Individuals interested in participating in research studies or accessing experimental treatments can find relevant information on this website.
  • Genetic Testing Process: Genetic testing for Pendred syndrome typically involves analyzing specific genes known to be associated with the condition. The detection of genetic mutations in these genes helps in confirming the diagnosis and understanding the underlying genetic basis of the individual’s condition.
  • Inheritance and Frequency: Pendred syndrome is a rare genetic condition with an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The frequency of Pendred syndrome in the general population is relatively low.
  • Associated Genes: Several genes have been associated with Pendred syndrome, including the SLC26A4 gene. Mutations in this gene disrupt the normal function of an ion transporter, which ultimately leads to the development of the condition.
  • Learn More: To learn more about Pendred syndrome and the associated genetic testing, individuals are encouraged to consult reputable genetic testing centers, healthcare professionals, and genetic counselors. These experts can provide personalized guidance and recommend appropriate testing options based on an individual’s specific circumstances.

References:

  1. Smith RJH, et al. Pendred Syndrome. 2002 Jul 17 [Updated 2019 Apr 18]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1467/.
  2. Yehia L, et al. Pendred Syndrome: A Review of Clinical Features and Genomic Advances. Clin Genet. 2015 Sep;88(3):207-15. doi: 10.1111/cge.12550. Epub 2015 Jun 23. PMID: 25996334.
  3. Kopp P. Pendred’s Syndrome and Genetic Testing of Thyroid Function for Nonsyndromic Causes of Nongoitrous Congenital Hypothyroidism. Endocrinol Metab Clin North Am. 1997 Jun;26(2):499-518. PMID: 9220424.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for patients, ion providers, and the general public seeking information on rare genetic conditions, such as Pendred syndrome. GARD provides comprehensive information on the symptoms, names of associated genes, inheritance patterns, and other relevant articles from scientific research. This information can be particularly helpful for patients and their families who are looking to learn more about the causes, testing options, and management of Pendred syndrome.

GARD maintains a catalog of rare diseases and provides resources, including links to PubMed articles and other reliable sources of information, to support further research and learning. Pendred syndrome is a rare genetic condition that primarily affects the thyroid function, with additional manifestations in the hearing and balance systems. It is associated with mutations in the SLC26A4 gene, which codes for a protein called pendrin.

For patients and families affected by Pendred syndrome, GARD offers information on the most current research, genetic testing options, and clinical trials that may be available. The website provides a list of advocacy organizations and support groups for this condition, as well as references to authoritative sources, such as OMIM (Online Mendelian Inheritance in Man).

Genetic testing for Pendred syndrome is typically done through specialized laboratories that offer testing panels for various genetic conditions. While Pendred syndrome is relatively rare, with a small frequency in the general population, it is important to consider this condition in individuals who have hearing loss or thyroid abnormalities. The information provided by GARD helps patients and healthcare providers learn more about Pendred syndrome and its associated conditions.

For more information on Pendred syndrome, including its symptoms, causes, and management, visit the Genetic and Rare Diseases Information Center at: https://rarediseases.info.nih.gov/diseases/6855/pendred-syndrome

See Also:  RIT1 gene

Patient Support and Advocacy Resources

Patients with Pendred syndrome, a rare genetic condition, often need additional support and advocacy resources to help them navigate their diagnosis and manage their symptoms. Here are some resources that can provide more information and support for patients with Pendred syndrome:

  • Pendred Syndrome Information Center – This center offers comprehensive information about Pendred syndrome, including its causes, symptoms, and treatment options. Patients can learn about the genetic inheritance of the condition and the function of the pendrin gene.
  • Patient Advocacy Organizations – Several patient advocacy organizations specialize in providing support for those with rare genetic conditions. These organizations often have online communities, support groups, and educational materials to help patients and their families better understand and cope with the challenges of Pendred syndrome.
  • Research Studies and Clinical Trials – Participation in research studies and clinical trials can provide patients with access to the latest advancements in the understanding and treatment of Pendred syndrome. ClinicalTrials.gov is a useful resource to search for ongoing studies and trials related to this condition.
  • Scientific Articles and Research Papers – Scientific articles and research papers can provide patients with more in-depth information about Pendred syndrome. PubMed is a reliable database that contains a wide range of research articles and references related to this condition.
  • Thyroid Testing and Additional Resources – Pendred syndrome is commonly associated with thyroid conditions. Patients may need thyroid testing to monitor their thyroid function. In addition to these tests, there are also other resources available to learn more about thyroid diseases and their management.
  • Genetic Testing and Counseling – Genetic testing can confirm the diagnosis of Pendred syndrome and determine the specific gene mutations involved. Genetic counseling can provide patients with information about the inheritance pattern of this condition and help them make informed decisions regarding family planning.

These resources can help patients with Pendred syndrome and their families to better understand their condition, find support, and access the necessary healthcare services. It is important for patients to stay informed and connected to the broader community of individuals with rare genetic conditions, as they can often learn from each other’s experiences and find comfort in knowing they are not alone.

Research Studies from ClinicalTrialsgov

The Pendred syndrome is a rare genetic condition that causes hearing loss and affects the function of the thyroid gland. It is typically associated with mutations in the SLC26A4 gene, which is responsible for the production of pendrin, a protein that helps regulate the movement of ions in the body. Pendred syndrome is usually inherited in an autosomal recessive manner, meaning both copies of the gene must be mutated for the condition to be present.

Research studies have been conducted to learn more about the causes, frequency, and additional conditions associated with Pendred syndrome. ClinicalTrials.gov is a valuable resource that provides information on ongoing research studies and clinical trials related to rare diseases. These studies aim to improve our understanding of the genetics and clinical presentation of Pendred syndrome, as well as explore potential treatment options.

Many of these studies focus on genetic testing for Pendred syndrome and related conditions. By analyzing the DNA of patients with Pendred syndrome, researchers hope to identify other genes that may be responsible for similar conditions. This information can help improve the accuracy of genetic testing and provide valuable insights into the underlying causes of these rare diseases.

ClinicalTrials.gov also provides support and resources for patients and advocacy groups. The website provides access to scientific articles, research studies, and clinical trial information related to Pendred syndrome. Additionally, it includes links to other databases, such as PubMed and OMIM, which provide further information on the genetics and clinical features of Pendred syndrome.

Overall, research studies from ClinicalTrials.gov are essential in advancing our knowledge of Pendred syndrome and improving patient care. These studies help identify new genes and associated conditions, enhance genetic testing, and provide a platform for collaboration and sharing of information among researchers and clinicians.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases, providing valuable information about various genetic conditions. It is a valuable resource that helps researchers, healthcare professionals, and advocacy groups learn more about rare genetic conditions and their associated genes.

The catalog includes information on both syndromic and nonsyndromic conditions associated with genetic mutations. One such condition is Pendred syndrome, caused by mutations in the SLC26A4 gene. Patients with Pendred syndrome typically have hearing loss and abnormal development of the inner ear. The OMIM catalog provides detailed information on this condition, including its clinical features, inheritance patterns, and references to scientific articles and research studies.

Through OMIM, researchers can access a wealth of information on the genetic basis of various diseases. They can learn about the function of specific genes and ions, the frequency of certain genetic mutations, and the most up-to-date information on ongoing clinical trials and research studies related to a particular disease. The catalog also provides resources for genetic testing and advocacy groups that offer support and information to patients and families affected by rare genetic conditions.

OMIM is an invaluable tool for scientists and clinicians working in the field of genetics. It provides a centralized and easily accessible platform for researchers to learn about the latest scientific advancements, connect with other professionals, and collaborate on studies related to specific genes or diseases. By pooling the knowledge and expertise of experts from around the world, OMIM helps accelerate research and improve the understanding of rare genetic conditions.

In summary, the catalog of genes and diseases from OMIM is a vital resource for anyone interested in learning more about the genetic causes of various conditions. It offers a comprehensive database of rare genes and associated diseases, providing valuable information on clinical features, inheritance patterns, genetic testing, and ongoing research. Whether you are a researcher, healthcare professional, or patient advocate, OMIM can help you stay informed about the latest developments in the field of genetics and contribute to advancing our understanding of rare genetic conditions.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about Pendred syndrome. It provides a wealth of information and resources for patients, researchers, and advocacy groups.

Pendred syndrome is a rare genetic condition that affects the function of the thyroid. It is typically associated with nonsyndromic hearing loss and is caused by mutations in the SLC26A4 gene. This gene encodes for a protein called pendrin, which is involved in the transport of ions across cell membranes.

Research on Pendred syndrome helps us understand the genetic causes and inheritance of this condition. Studies have found that mutations in the SLC26A4 gene are the most common cause of Pendred syndrome. There are also other rare genetic conditions associated with mutations in this gene.

PubMed provides access to scientific articles on Pendred syndrome, clinical trials, and other related research. It helps patients and healthcare providers stay up-to-date with the latest information on diagnosis, testing, treatment, and management of Pendred syndrome.

Advocacy groups and patient support centers can also find valuable resources on PubMed. These resources include information about the condition, genetic testing, and support networks for individuals and families affected by Pendred syndrome.

By searching PubMed, you can find scientific articles on Pendred syndrome, genetic testing, and associated conditions. These articles provide more information about the function of the pendrin protein, the clinical manifestations of Pendred syndrome, and the frequency of certain genetic mutations.

References to scientific articles on Pendred syndrome can be found in PubMed’s catalog of articles (known as PubMed Central) and in scientific journals. The Online Mendelian Inheritance in Man (OMIM) database is also a useful resource for learning about the genetics of Pendred syndrome.

Overall, PubMed is a valuable tool for accessing scientific articles and other resources on Pendred syndrome. It helps researchers, healthcare providers, and advocacy groups to learn more about this rare genetic condition and to support individuals and families affected by it.

References

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