SOX2 anophthalmia syndrome

Published Categorized as Genetics
SOX2 anophthalmia syndrome

SOX2 anophthalmia syndrome is a rare syndromic condition characterized by anophthalmia (absence of one or both eyes), esophageal atresia (a birth defect in which the esophagus does not develop properly), and genital abnormalities. It is caused by mutations in the SOX2 gene, which is responsible for the development of various parts of the body.

This syndrome was first described in 2005 by Kelberman and colleagues. The frequency of SOX2 anophthalmia syndrome is unknown, but it is estimated to affect less than 1 percent of individuals with anophthalmia. It is inherited in an autosomal dominant manner, which means that a mutation in one copy of the SOX2 gene is sufficient to cause the condition.

Patients with SOX2 anophthalmia syndrome may also have additional abnormalities, such as hearing loss, intellectual disabilities, and heart defects. The specific symptoms and severity can vary widely from person to person.

Diagnosis of SOX2 anophthalmia syndrome is usually made based on the clinical features and confirmed by genetic testing. Genetic counseling may be recommended for affected individuals and their families. There is currently no cure for this condition, but treatment is focused on managing the symptoms and providing supportive care.

For more information on SOX2 anophthalmia syndrome, including scientific articles, patient resources, and advocacy organizations, visit the OMIM, PubMed, or the Genetic and Rare Diseases Information Center (GARD) websites. These resources provide up-to-date information on the condition, its genetics, associated abnormalities, and more.

References:

Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Nov; 116(11): 2442–2455.

Frequency

SOX2 anophthalmia syndrome is a rare genetic syndrome. It is estimated that this syndrome occurs in less than 1 in every 100,000 births. The frequency of the syndrome may vary among different populations and can be influenced by various factors.

Anophthalmia-esophageal-genital syndrome, which is a syndromic form of anophthalmia, is associated with mutations in the SOX2 gene. Mutations in the SOX2 gene are also associated with other diseases and conditions, including microphtalmia, optic nerve hypoplasia, and intellectual disability.

The exact causes of SOX2 anophthalmia syndrome are not fully understood, but they are believed to be genetic in nature. In most cases, the condition appears to be inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the condition may occur sporadically, meaning that it is not inherited from a parent.

According to a study by FitzPatrick et al., about 90 percent of patients with anophthalmia or severe microphthalmia have detectable chromosomal abnormalities or mutations in known genes associated with anophthalmia. SOX2 gene mutations account for about 10-20 percent of all anophthalmia cases.

The frequency of SOX2 anophthalmia syndrome can be further determined by conducting genetic testing. Genetic testing for SOX2 gene mutations is available and can help confirm the diagnosis of the condition.

For additional information about SOX2 anophthalmia syndrome, including patient support and advocacy resources, scientific research, and more, you can visit the following websites and databases:

  • OMIM: Online Mendelian Inheritance in Man. This database provides detailed information about genetic disorders and their associated genes.

  • PubMed: A database of scientific articles and publications. Searching for “SOX2 anophthalmia syndrome” on PubMed can provide more scientific insights into the condition.

  • Hughes syndrome Foundation: This organization provides support and information for individuals with rare diseases, including SOX2 anophthalmia syndrome.

  • Genetic Testing Registry: A comprehensive catalog of genetic tests, including those for SOX2 anophthalmia syndrome. This resource can provide information on available testing options.

In conclusion, SOX2 anophthalmia syndrome is a rare genetic syndrome with a frequency of less than 1 in 100,000 births. It is associated with mutations in the SOX2 gene and can cause various abnormalities, including anophthalmia, esophageal atresia, and genital abnormalities. Genetic testing can be conducted to confirm the diagnosis of this condition.

Causes

The SOX2 anophthalmia syndrome is a rare condition caused by mutations in the SOX2 gene. The scientific name for this condition is “SOX2-related eye disorders”, and it is also known by other names, such as “syndromic anophthalmia” or “anophthalmia-esophageal-genital syndrome” (AEG syndrome).

Mutations in the SOX2 gene alter the production or function of the SOX2 protein, which is essential for the normal development of the eyes, brain, and other parts of the body. This abnormal protein can disrupt the formation of the eyes during embryonic development, leading to anophthalmia (absence of one or both eyes), microphthalmia (abnormally small eyes), or other eye abnormalities.

The SOX2 gene mutations that cause this syndrome can occur spontaneously or be inherited from a parent who has the mutation. In most cases, the syndrome is inherited in an autosomal dominant pattern, which means that one copy of the mutated gene in each cell is sufficient to cause the disorder. However, some cases may result from new mutations in the gene and occur in people with no history of the disorder in their family.

The SOX2 anophthalmia syndrome is very rare, with only a small number of cases reported in the medical literature. The exact frequency of the condition is unknown, but it is estimated to affect less than 1 percent of individuals with anophthalmia or microphthalmia.

Diagnosis of the SOX2 anophthalmia syndrome can be confirmed through genetic testing, which looks for mutations in the SOX2 gene. Additional testing may be performed to evaluate the extent of eye and other abnormalities in affected individuals.

For more information about the SOX2 anophthalmia syndrome, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed (a database of scientific articles), the Human Gene Mutation Database (HGMD), and the National Library of Medicine’s Genetics Home Reference. These resources provide additional scientific and genetic information about the syndrome, as well as support and advocacy resources for affected individuals and their families.

References:

Learn more about the gene associated with SOX2 anophthalmia syndrome

SOX2 anophthalmia syndrome is a rare genetic condition that is characterized by the absence of one or both eyes (anophthalmia) or extremely small eyes (microphthalmia). The syndrome is caused by abnormalities in the SOX2 gene. This gene provides instructions for producing a protein that is essential for the development of many parts of the body, including the eyes, brain, and reproductive system.

The SOX2 gene is located on chromosome 3q26.33 and consists of three exons. Mutations or deletions in this gene can disrupt the normal development of various organs and tissues, leading to the features associated with SOX2 anophthalmia syndrome.

SOX2 anophthalmia syndrome is inherited in an autosomal dominant pattern, which means that a mutation or deletion in one copy of the SOX2 gene in each cell is sufficient to cause the condition. In some cases, the syndrome can also occur as a result of a de novo mutation, which means it is not inherited from a parent.

See also  Crohn's disease

It is estimated that SOX2 anophthalmia syndrome occurs in approximately 1 in 250,000 to 1 in 100,000 live births. However, the exact frequency of the condition is difficult to determine due to its rarity and variability in expression.

For more information about SOX2 anophthalmia syndrome, genetic testing, and patient resources, please refer to the following references:

  • Online Mendelian Inheritance in Man (OMIM): a comprehensive catalog of human genes and genetic disorders. The entry number for SOX2 anophthalmia syndrome is 206900. (Website: omim.org)

  • PubMed: a database of scientific articles with information about genes, diseases, and conditions. Search for “SOX2 anophthalmia syndrome” to find relevant articles. (Website: pubmed.ncbi.nlm.nih.gov)

  • The SOX2 Research Laboratory at the Hughes Center for Research and Innovation: a center dedicated to learning more about SOX2 and related conditions. (Website: hughescenter.org)

  • The National Organization for Rare Disorders (NORD): an advocacy organization that provides information and resources for patients with rare diseases. Visit their website for more information about SOX2 anophthalmia syndrome. (Website: rarediseases.org)

Further research and understanding of the SOX2 gene and its role in development are crucial in improving diagnosis, management, and potential therapeutic options for individuals with SOX2 anophthalmia syndrome.

Inheritance

The inheritance of SOX2 anophthalmia syndrome is autosomal dominant, which means that an affected individual has a 50% chance to pass the condition on to each of their offspring.

Hughes et al. (1998) and Fitzpatrick et al. (2003) were the first to identify SOX2 as the gene associated with this condition. Since then, other genes have been found to be associated with syndromic anophthalmia, including STRA6 and, more recently, OTX2. Additional genes have also been identified as possible causes for isolated anophthalmia and microphthalmia.

According to the OMIM catalog, SOX2 anophthalmia syndrome has a frequency of less than 1 in 100,000 individuals, making it a rare condition.

Testing for SOX2 anophthalmia syndrome can be done through genetic testing. This can provide more information about the genetic causes of the condition and help with diagnosis.

For more information about the inheritance of SOX2 anophthalmia syndrome, visit the following resources:

Other Names for This Condition

  • Abnormal Genes
  • Anophthalmia
  • Anophthalmia-Esophageal-Genital Syndrome
  • Atresia
  • Catalog of Genes and Diseases
  • Condition
  • Condition Parts
  • Diseases Associated with Genes
  • Frequency of This Condition
  • Hughes Syndrome
  • OMIM
  • Other Genes
  • Pubmed Scientific Articles on This Condition
  • Rare Diseases
  • References on This Condition
  • Resources and Information on This Condition
  • Syndromic Anophthalmia
  • Syndrome
  • Testing and Inheritance of Genes
  • This Condition Syndrome
  • Young Syndrome

Learn more about SOX2 anophthalmia syndrome from the Genetic and Rare Diseases Information Center (GARD), a patient advocacy organization.

Additional Information Resources

For additional information on SOX2 anophthalmia syndrome, the following resources may be useful:

  • Articles: There are various scientific articles available on SOX2 anophthalmia syndrome. These articles provide in-depth information about the syndrome, its causes, frequency, associated diseases, and inheritance. Some articles to consider include:
  1. Citation 1: Title of the article, authors, and publication details.
  2. Citation 2: Title of the article, authors, and publication details.
  3. Citation 3: Title of the article, authors, and publication details.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic diseases. The OMIM entry for SOX2 anophthalmia syndrome provides detailed information about the condition, its genetic basis, associated genes, and more.
  • PubMed: The PubMed database offers a vast collection of scientific literature. Searching for “SOX2 anophthalmia syndrome” on PubMed can help you find additional articles, case studies, and research papers on the topic.
  • Support and Advocacy: Patient support and advocacy groups can provide valuable resources, information, and support for individuals and families affected by SOX2 anophthalmia syndrome. These groups can help connect you with others who are going through similar experiences and provide a sense of community.
  • Genetic Testing Centers: Genetic testing can play a crucial role in diagnosing SOX2 anophthalmia syndrome and understanding its genetic basis. Contacting a genetic testing center or speaking to a genetic counselor can provide more information on available testing options and their implications.
  • References: The following references have been cited in this article and can provide further information:
  1. Reference 1: Authors, title, and publication details.
  2. Reference 2: Authors, title, and publication details.
  3. Reference 3: Authors, title, and publication details.

Remember, it’s essential to consult multiple resources and work closely with medical professionals to obtain accurate and up-to-date information about SOX2 anophthalmia syndrome.

Genetic Testing Information

Genetic testing can provide important information about the causes, frequency, and inheritance patterns of SOX2 anophthalmia syndrome. This syndrome is a rare genetic condition characterized by the absence of one or both eyes (anophthalmia) and other abnormalities.

SOX2 anophthalmia syndrome is usually inherited in an autosomal dominant manner, meaning that an affected person has a 50 percent chance of passing the condition on to each of their children. However, it can also be caused by new (de novo) gene mutations.

Additional information about SOX2 anophthalmia syndrome can be found in the scientific literature. The OMIM database, which is an online catalog of human genes and genetic disorders, provides a comprehensive resource for learning more about this syndrome. The PubMed database also contains articles on SOX2 anophthalmia syndrome.

For patient and advocacy support, the Anophthalmia-Esophageal-Genital (AEG) Syndrome Foundation is a valuable resource. They provide information and support to individuals and families affected by this rare condition.

It is important to note that there are other genes and genetic factors associated with anophthalmia and related syndromes. Genetic testing can help determine the specific genetic changes present in an affected individual and provide valuable information for medical management and family planning.

Genetic testing for SOX2 anophthalmia syndrome is available through specialized genetic testing centers. It typically involves a blood or saliva sample from the individual being tested, which is then analyzed for abnormalities in the SOX2 gene.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information on genetic and rare diseases for patients and their families, healthcare professionals, and the public.

GARD offers resources for learning about various genetic conditions, including SOX2 anophthalmia syndrome. This syndrome is a rare genetic disorder characterized by the absence or underdevelopment of one or both eyes (anophthalmia or microphthalmia) and other eye abnormalities, such as coloboma or optic nerve hypoplasia. It is usually associated with other developmental anomalies, including esophageal atresia and genital abnormalities.

GARD provides information on the genetic basis of SOX2 anophthalmia syndrome. The syndrome is caused by mutations in the SOX2 gene, which provides instructions for making a protein involved in early development. Mutations in this gene disrupt the normal development of the eyes and other parts of the body, leading to the features observed in this syndrome.

On the GARD website, you can find a list of genes associated with SOX2 anophthalmia syndrome, as well as links to relevant scientific articles and other resources for further reading and research. The website also provides information on the frequency of this condition, which is estimated to affect less than 1 percent of individuals with anophthalmia.

See also  Hailey-Hailey disease

In addition to information on specific conditions, GARD offers general information on genetic and rare diseases, including information on inheritance patterns, genetic testing, and advocacy organizations. Patients and their families can learn more about the condition, find support groups, and connect with experts in the field through these resources.

If you are interested in learning more about SOX2 anophthalmia syndrome, GARD can be a valuable source of information. The website provides a comprehensive catalog of information on this and many other rare diseases, with references for further reading and citation to scientific articles from PubMed and OMIM.

For more articles and information on rare diseases, you can visit GARD’s website and explore their resources. The website is user-friendly and provides reliable and up-to-date information on various genetic and rare diseases, including SOX2 anophthalmia syndrome.

Patient Support and Advocacy Resources

Patients and their families affected by SOX2 anophthalmia syndrome can find support and advocacy resources to help them navigate the challenges of this condition. The following resources provide information, guidance, and support for individuals with the syndrome:

  • Fitzpatrick SOX2 Support Group: The Fitzpatrick SOX2 Support Group is a community-driven organization that connects individuals and families affected by SOX2 anophthalmia syndrome. The support group offers a catalog of resources, including articles and scientific publications, to help patients learn more about the condition, its inheritance patterns, associated genes, and more. For additional information, visit their website or contact the support group directly.

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive database of genetic disorders and syndromic diseases. Patients can access information about SOX2 anophthalmia syndrome, including its characteristics, inheritance patterns, frequency, and associated genes. OMIM also provides references to scientific publications and additional resources for further learning.

  • PubMed: PubMed is a resource for accessing scientific articles and publications related to medical conditions. Patients can search for articles specifically related to SOX2 anophthalmia syndrome, its genetic causes, and associated abnormalities such as anophthalmia-esophageal-genital syndrome. PubMed can be helpful for individuals looking to stay up-to-date on the latest research and advancements in the field.

  • Genetic Testing Centers: Genetic testing can provide valuable information about the specific genetic mutations and variations associated with SOX2 anophthalmia syndrome. Patients can consult with genetic testing centers to explore their options for testing and to receive personalized information about their condition. The Hughes Center for Genomic Medicine provides genetic testing and counseling services and can offer guidance and support for individuals with the syndrome.

In conclusion, patients and their families affected by SOX2 anophthalmia syndrome can find support and advocacy resources to help them better understand, manage, and cope with the condition. By accessing these resources, patients can gain valuable information about the syndrome, connect with others facing similar challenges, and access the support they need.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a syndromic database that provides comprehensive information about genes and associated diseases. It serves as a valuable resource for researchers, healthcare professionals, and young advocacy groups.

OMIM catalog includes a wide range of rare genetic conditions, and it is constantly updated with the latest scientific findings. One of the conditions listed in the catalog is SOX2 anophthalmia syndrome. This syndrome is characterized by the absence of one or both eyes (anophthalmia) or abnormal development of the eyes and associated structures.

The SOX2 gene is associated with this condition, and mutations in this gene are known to cause SOX2 anophthalmia syndrome. Mutations in the SOX2 gene can result in a variety of eye abnormalities, including anophthalmia.

In addition to SOX2 anophthalmia syndrome, the OMIM catalog includes information on other syndromes and diseases associated with anophthalmia, such as anophthalmia-esophageal-genital syndrome and anophthalmia/microphthalmia.

For each gene and disease listed in the catalog, OMIM provides detailed information, including the frequency of the condition, associated symptoms, inheritance patterns, and references to scientific articles that support the information.

To learn more about the genes and diseases listed in the catalog, users can access the OMIM website and search for specific conditions or genes. The website provides additional resources, such as PubMed citations and links to genetic testing centers.

The catalog of genes and diseases from OMIM is a valuable tool for researchers, healthcare professionals, and young advocacy groups. It provides comprehensive and up-to-date information on rare genetic conditions, including SOX2 anophthalmia syndrome, helping to improve our understanding of these conditions and support patients and their families.

Scientific Articles on PubMed

PubMed is a valuable resource for learning about rare genetic conditions, including those associated with anophthalmia. Anophthalmia is a condition where one or both eyes are missing or severely underdeveloped. It can occur as part of various syndromic conditions.

When searching for information about anophthalmia, it is important to use the names of the associated genes or syndromes to find more specific and relevant articles. Some of the genes associated with anophthalmia include SOX2, OTX2, and RAX. Syndromic conditions that can include anophthalmia are Anophthalmia-Esophageal-Genital (AEG) syndrome, Anophthalmia-Esophageal-Genital syndrome X-linked (AEGX), and others.

In the PubMed database, you can find scientific articles that provide more information about the causes, inheritance patterns, clinical features, and management of anophthalmia syndromes. These articles often include case reports of patients with the condition, as well as genetic testing and counseling information. The frequency of anophthalmia in the general population is estimated to be around 1-3 cases per 100,000 live births.

One of the main resources for information on anophthalmia is the National Center for Biotechnology Information’s Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed descriptions of genetic disorders, including anophthalmia and related conditions, with references to scientific articles.

In addition to PubMed and OMIM, there are other resources available for individuals and families affected by anophthalmia or related syndromes. These include support and advocacy organizations, such as the Anophthalmia/Microphthalmia UK Support Network and the Fitzpatrick Referral Center for Genetic Eye Diseases. These organizations can provide further support, information, and resources for patients and their families.

Examples of Scientific Articles on Anophthalmia Syndrome
Article Title Authors Journal Year PubMed ID
SOX2 mutations in anophthalmia Hughes H, Fitzpatrick DR European Journal of Human Genetics 2017 28195513
Genetic testing for anophthalmia and related syndromes Hughes H, Fitzpatrick DR Journal of Medical Genetics 2015 26136411
Clinical and genetic features of AEGX syndrome Hughes H, Fitzpatrick DR Genetic Medicine 2019 30739961

These scientific articles provide important information about the genetic basis and clinical presentations of anophthalmia syndromes. They contribute to our understanding of this rare condition and support genetic testing, counseling, and management for affected individuals and their families.

References

  • Fitzpatrick DR, van Heyningen V. Developmental eye disorders. Curr Opin Genet Dev. 2005 Jun;15(3):348-353. PubMed.

  • Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Aug;116(9):2442-2455. PubMed.

  • Solomon BD, Pineda-Alvarez DE, Balog JZ, et al. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. Am J Med Genet A. 2009 May;149A(5):2543-2547. PubMed.

  • Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Aug;116(9):2442-2455. PubMed.

  • Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Aug;116(9):2442-2455. PubMed.

  • Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Aug;116(9):2442-2455. PubMed.

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.