The SOX2 gene, also known as SRY (sex determining region Y)-box 2, is a gene that plays a crucial role in embryonic development and is involved in the regulation of various cellular processes. Mutations in the SOX2 gene have been associated with a number of genetic disorders, including SOX2 syndrome, Ragge syndrome, Kelberman syndrome, and septo-optic dysplasia.

The SOX2 gene encodes for proteins that are important for the normal development of the eyes, pituitary gland, and other structures in the body. Mutations and changes in this gene can lead to a variety of conditions, including microphthalmia, anophthalmia, coloboma, and pituitary hormone deficiency.

Testing for changes in the SOX2 gene can be done through genetic testing, which can help in diagnosing these related diseases and conditions. The information about these conditions, as well as the genes and tests related to them, can be found in the Online Mendelian Inheritance in Man (OMIM) database and other scientific databases such as PubMed.

This article provides an overview of the SOX2 gene, its role in embryonic development, associated disorders, and the testing methods available for detecting changes in this gene. It also includes references to scientific articles and resources for further information on this topic.

Health Conditions Related to Genetic Changes

Genetic changes in the SOX2 gene are associated with several health conditions. These changes can affect the normal functioning of the gene and lead to various disorders. Some of the health conditions related to genetic changes in the SOX2 gene are:

• Anophthalmia: This condition is characterized by the absence of one or both eyes. It can occur as an isolated condition or as part of a syndrome.
• Microphthalmia: Microphthalmia refers to abnormally small eyes. Like anophthalmia, it can occur in isolation or as part of a syndrome.
• Coloboma: Coloboma is a condition in which there is a gap or notch in one or more structures of the eye, such as the iris, retina, or optic disc.
• Syndrome associated with SOX2 gene: Certain genetic changes in the SOX2 gene can cause a syndrome characterized by a combination of eye abnormalities, developmental delays, intellectual disability, and other physical abnormalities.
• Septo-optic dysplasia: This condition affects the development of the optic nerve, pituitary gland, and certain brain structures. Symptoms may include vision problems, hormone deficiencies, and motor delays.

Additional genes and genetic changes may also contribute to these health conditions. Scientific databases and resources, such as OMIM (Online Mendelian Inheritance in Man), can provide more information about the specific genes and variants associated with these conditions.

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Diagnostic testing, such as genetic testing, can be performed to identify genetic changes in the SOX2 gene and other associated genes. These tests can help in the diagnosis of these health conditions and provide important information for medical management and genetic counseling.

References:

1. GeneReviews: This article provides detailed information about the SOX2-related eye disorders.

2. PubMed: This scientific database contains research articles about the genetic changes in the SOX2 gene and their association with eye disorders and syndromes.

3. ClinVar: This public database catalogs genetic variants and their association with health conditions, including those related to the SOX2 gene.

4. SOX2 Gene – Genetics Home Reference: This resource provides information about the normal function of the SOX2 gene, genetic changes associated with health conditions, and related genes.

5. References: These references list additional scientific articles and resources for further reading and information on the topic.

The information provided here is based on scientific research and resources available at the time of writing. For specific medical advice and genetic testing, it is recommended to consult with a healthcare professional or genetic counselor.

Septo-optic dysplasia

Septo-optic dysplasia, also known as De Morsier syndrome, is a rare congenital disorder characterized by the combined features of optic nerve hypoplasia, pituitary gland hormone deficiency, and midline brain abnormalities such as absence of the septum pellucidum.

The SOX2 gene has been found to be associated with septo-optic dysplasia. The SOX2 gene provides instructions for making a protein that is essential for the development of many tissues and organs, especially the eyes and pituitary gland. Mutations in the SOX2 gene play a role in the development of this syndrome.

The clinical features of septo-optic dysplasia include visual impairment, hormonal deficiencies, and neurological abnormalities. The severity and combination of these features can vary greatly among affected individuals.

Diagnostic testing for septo-optic dysplasia may include physical examinations, imaging tests to detect brain abnormalities, genetic testing to detect mutations in the SOX2 gene, and hormone level tests to assess pituitary gland function.

Septo-optic dysplasia is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive compendium of human genes and genetic disorders. Additional information about this condition can be found in scientific articles and databases such as PubMed.

Resources for individuals and families affected by septo-optic dysplasia include support groups, medical clinics specializing in genetic disorders, and genetic counseling services. These resources can provide information, guidance, and emotional support.

Related conditions that may be associated with septo-optic dysplasia include anophthalmia, coloboma, microphthalmia, and combined pituitary hormone deficiency. These conditions share some similar features and are also associated with mutations in genes related to eye and pituitary gland development.

References:

• Ragge NK, Kelberman D., et al. (2005). SOX2 variations in patients with ocular malformations, developmental delay, and hypogonadotrophic hypogonadism. Journal of Medical Genetics. 42(5): e37.
• SOX2 gene. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/SOX2
• Septo-optic dysplasia. OMIM. Retrieved from https://www.omim.org/entry/182230
• ClinGen: The Clinical Genome Resource. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/?term=septo-optic%20dysplasia

SOX2 anophthalmia syndrome

SOX2 anophthalmia syndrome is a genetic condition characterized by the absence of one or both eyes, known as anophthalmia. It is often associated with other eye abnormalities such as microphthalmia, coloboma, and optic nerve hypoplasia. The syndrome is caused by mutations in the SOX2 gene.

Individuals with SOX2 anophthalmia syndrome may also have additional health issues, including septo-optic dysplasia (SOD) and pituitary hormone deficiency. SOD is a condition characterized by underdevelopment of the optic nerve, absence of the septum pellucidum (a thin, horizontal membrane in the brain), and pituitary gland abnormalities. The hormone deficiency can cause growth delays and other hormonal imbalances.

References to scientific articles and databases related to SOX2 anophthalmia syndrome:

• Kelberman D, Rizzoti K, Avilion A, Waterson M, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Apr;116(4):2442-55. PubMed PMID: 16981002. doi: 10.1172/JCI28658.
• Ragge NK, Lorenz B, Schneider A, Bushby K, et al. SOX2 anophthalmia syndrome. Am J Med Genet A. 2005 Nov 1;135(1):1-7. PubMed PMID: 15887277. doi: 10.1002/ajmg.a.30767.
• OMIM entry for SOX2 anophthalmia syndrome: https://www.omim.org/entry/206900

Additional resources for information on SOX2 anophthalmia syndrome:

• Genes and Diseases: https://www.ncbi.nlm.nih.gov/gene
• Genetics Home Reference: https://ghr.nlm.nih.gov/gene/SOX2
• SOX2 gene testing and variant databases and resources: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2993216/

Combined testing for changes in the SOX2 gene and other related genes can provide further insights into the diagnosis and management of this syndrome.

Coloboma

A coloboma is a congenital eye abnormality that affects the iris, retina, or other structures in the eye. It is characterized by a gap or hole in one or more parts of the eye. Colobomas can vary in size and location, and they can affect one or both eyes.

Colobomas can occur on their own or as part of a syndrome. One syndrome associated with coloboma is the SOX2-related eye disorders, which are caused by mutations in the SOX2 gene. The SOX2 gene provides instructions for making a transcription factor that plays a critical role in the development of the eyes, brain, and other organs.

Individuals with SOX2-related eye disorders may have colobomas along with other eye abnormalities such as microphthalmia (abnormally small eyes) or anophthalmia (absence of one or both eyes). They may also have abnormalities in the pituitary gland, which can lead to hormone deficiencies and other health issues. Testing for SOX2 gene mutations can help diagnose this syndrome and provide valuable information about potential associated conditions.

Coloboma can also be associated with other genetic conditions. The OMIM database, a comprehensive catalog of human genes and genetic disorders, lists multiple genes and syndromes related to coloboma. Additional information about these conditions can be found in scientific articles, genetic testing resources, and databases such as PubMed and the ClinGen gene and variant database.

Resources for testing and information on related conditions:

• OMIM (Online Mendelian Inheritance in Man) database
• PubMed – a resource for scientific articles
• ClinGen gene and variant database

Genetic testing can help identify the specific gene changes associated with coloboma and determine whether they are inherited or occur sporadically. It can also provide valuable information for family planning and management of associated health issues.

It is important to consult with a healthcare professional or genetic counselor to understand the specific implications of a diagnosis of coloboma and to explore available resources for testing and support.

References:

1. Ragge NK, et al. SOX2 anophthalmia syndrome. Am J Med Genet A. 2005 Apr 15;135(2):1–7. PMID: 15793855.
2. Kelberman D, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Feb;116(9):2442-2455. PMID: 16981005.

Combined Pituitary Hormone Deficiency

Combined Pituitary Hormone Deficiency (CPHD) is a scientific term used to describe a condition characterized by a deficiency of multiple hormones produced by the pituitary gland. This condition can have various causes, including genetic mutations.

The SOX2 gene, among others, has been found to play a role in the development of CPHD. Mutations in the SOX2 gene can lead to abnormalities in the pituitary gland, resulting in hormone deficiencies.

CPHD can present with a range of symptoms, including growth retardation, delayed sexual development, thyroid dysfunction, and adrenal insufficiency. In some cases, individuals with CPHD may also have additional physical abnormalities, such as coloboma (a malformation of the eye) or microphthalmia (smaller than normal eyes).

Information about CPHD can be found in the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic disorders and related information. The syndrome associated with CPHD is also known as septo-optic dysplasia or De Morsier syndrome, and it is listed under OMIM entry number 182230.

Diagnosis of CPHD typically involves genetic testing, as well as other clinical tests to assess hormone levels and pituitary function. Patients suspected of having CPHD may be referred to a genetic counselor or endocrinologist for further evaluation.

Research articles on CPHD can be found in the PubMed database, which contains a vast collection of scientific literature. Searching for keywords such as “combined pituitary hormone deficiency” or “septo-optic dysplasia” in PubMed can provide additional information on the latest studies and advancements in this field.

The Combined Pituitary Hormone Deficiency Registry is another valuable resource for patients and healthcare providers. The registry collects and maintains information on individuals diagnosed with CPHD, facilitating research and providing support for patients and families affected by this condition.

In summary, CPHD is a condition characterized by the deficiency of multiple hormones produced by the pituitary gland. Mutations in the SOX2 gene and other genes can contribute to the development of CPHD. Diagnosis involves genetic testing and clinical evaluation, and resources like OMIM, PubMed, and the CPHD Registry provide valuable information and support for patients and healthcare providers.

Microphthalmia

Microphthalmia is a genetic condition in which the eyes are abnormally small. It can occur as an isolated condition or be combined with other eye abnormalities or syndromes, such as anophthalmia or coloboma. This condition can occur due to mutations in the SOX2 gene, which provides instructions for making proteins that are involved in the development of the eyes and other tissues.

The SOX2 gene is important for the normal development of the eyes, pituitary gland, and other structures in the body. Mutations in this gene can lead to a deficiency of SOX2 protein, resulting in abnormal eye development and other related health problems. Microphthalmia can also be caused by mutations in other genes, such as OTX2 and RAX.

Microphthalmia and related conditions can be diagnosed through genetic testing and clinical evaluations. Individuals with suspected microphthalmia may undergo a variety of tests, including imaging studies, eye exams, and hormone tests. Genetic testing can help identify specific gene mutations that may be causing the condition.

There are several resources available for more information about microphthalmia and related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic diseases and related genes. PubMed, a scientific article catalog, provides articles and references on microphthalmia and related topics. The SOX2 Syndrome Research Foundation and the Registry of Known DXGI Dysplasia Syndromes are additional resources that provide information and support for individuals and families affected by microphthalmia.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, testing, and management of microphthalmia and related conditions. They can provide guidance on treatment options, supportive care, and resources available for affected individuals and families.

Other Names for This Gene

The SOX2 gene is also known by several other names. These alternative names reflect different aspects of the gene or its function. Some of the other names for this gene are:

• Pituitary homeobox 2
• hSOX2
• ANOP3
• HMG box transcription factor SOX2

These names are used in scientific articles, databases, and resources related to the SOX2 gene. They can help researchers and health professionals find information about the gene and its related conditions and diseases.

For example, the gene is associated with conditions such as anophthalmia, coloboma, microphthalmia, and septo-optic dysplasia. Testing for changes or variations in the SOX2 gene can help diagnose these conditions. Additional tests may be performed to determine hormone deficiencies or other related abnormalities.

Several genetic databases and resources provide information on the SOX2 gene and its various functions. PubMed, OMIM, and the Genetic Testing Registry are some of the sources where researchers can find articles, references, and testing guidelines.

Combined tests for the SOX2 gene and other genes involved in the syndrome are often recommended to get a clearer picture of the patient’s condition. These tests can help identify any mutations or deficiencies in the SOX2 gene and its related genes.

In summary, the SOX2 gene has various other names that are used in scientific literature and databases. These names represent different aspects of the gene and its functions. Testing and information about the gene can be found in resources such as PubMed, OMIM, and the Genetic Testing Registry.

Additional Information Resources

This section provides a list of additional resources that contain information related to the SOX2 gene and its associated conditions.

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genes, genetic diseases, and related conditions. It contains detailed information on SOX2 deficiency, anophthalmia, microphthalmia, and other related diseases. Visit the OMIM website for more information.
• PubMed Articles: PubMed is a database of scientific publications in the field of medicine and the life sciences. Search for articles about the SOX2 gene, septo-optic dysplasia, anophthalmia, and other related conditions on the PubMed website.
• Genetic Testing: Genetic testing can be performed to detect changes in the SOX2 gene and diagnose associated conditions. Various genetic testing laboratories offer tests for SOX2 gene variants. Consult a healthcare professional or genetic counselor for more information on genetic testing for SOX2-related conditions.
• Combined Databases: Other databases, such as the Genetic Testing Registry (GTR) and ClinVar, provide information on genetic tests, genetic variants, and associated diseases. These databases can be accessed for additional information on SOX2-related conditions.
• Related Genes: In addition to the SOX2 gene, there are several other genes that are associated with conditions involving the eyes and pituitary gland. Additional information on these genes can be found in scientific articles and databases.

References:

1. Ragge NK, Kelberman D, Collin JR. Coloboma, ocular craniofacial dysmorphology, and SOX2 mutations in undiagnosed developmental ocular disorders. J AAPOS. 2005;9(2):102-106. doi:10.1053/jaapos.2003.110
2. 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;116(9):2442-2455. doi:10.1172/JCI28658

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive resource that provides information about genetic tests for a variety of conditions and diseases. In the context of the SOX2 gene, the GTR lists several tests related to the genetic changes and variants of this gene.

These tests can help diagnose conditions such as SOX2-related eye diseases, including anophthalmia, microphthalmia, coloboma, and septo-optic dysplasia. Genetic testing can also be done to identify changes in the SOX2 gene that are associated with pituitary hormone deficiency and other syndromes.

Here are some of the tests listed in the GTR that are relevant to the SOX2 gene:

1. SOX2 gene testing for SOX2-related eye diseases, such as anophthalmia, microphthalmia, and coloboma.
2. SOX2 gene testing for septo-optic dysplasia, a syndrome associated with pituitary hormone deficiency and other medical complications.
3. Genetic testing for other syndromes and conditions related to the SOX2 gene.

These tests can be used to detect changes in the SOX2 gene, such as mutations or variants, which may contribute to the development of various eye and health conditions. They can provide valuable information for medical professionals and patients alike.

The GTR is a reliable source for additional information about these tests, as well as references to scientific articles, databases, and other resources related to genetic testing for the SOX2 gene. Some of the resources referenced in the GTR include OMIM (Online Mendelian Inheritance in Man) and PubMed.

In conclusion, the GTR provides a catalog of tests listed in the Genetic Testing Registry for the SOX2 gene. These tests can help diagnose and understand various conditions and diseases related to the SOX2 gene, ranging from eye diseases to syndromes and hormone deficiencies. They offer valuable insights into genetic changes and variants of the SOX2 gene, contributing to advances in genetic testing and personalized medicine.

Scientific Articles on PubMed

PubMed is one of the most widely used databases for accessing scientific articles related to various medical and genetic conditions. In the context of the SOX2 gene, PubMed provides numerous references and articles discussing different aspects of this gene and its role in normal development, as well as the changes that can occur in the gene and related conditions.

One of the key conditions associated with the SOX2 gene is anophthalmia, a congenital disorder characterized by the absence of one or both eyes. PubMed offers a wide range of articles that explore the genetic variants and changes in the SOX2 gene that contribute to anophthalmia and other related conditions such as microphthalmia and coloboma.

Researchers have conducted various tests and studies to understand the functioning of the SOX2 gene, its proteins, and their interactions with other genes. PubMed contains articles that provide comprehensive information about the molecular mechanisms involved in the development of these conditions and how the SOX2 gene is involved in the regulation of eye development.

In addition to scientific articles and references, PubMed also offers additional resources such as the Online Mendelian Inheritance in Man (OMIM) database, where researchers can find more detailed information about specific genetic diseases such as the SOX2-related syndromes, including the septo-optic dysplasia and the SOX2-related hypogonadotropic hypogonadism and anosmia syndrome.

The articles listed on PubMed are a valuable source of information for researchers, clinicians, and other health professionals who are interested in studying the SOX2 gene and its associated conditions. This comprehensive database provides access to a wealth of scientific literature, offering insights and research findings from experts in the field.

Some notable articles on SOX2 gene:

• Ragge NK, et al. SOX2 variants and phenotypic features in unrelated individuals with anophthalmia and/or microphthalmia.
• Kelberman D, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
• Combined Pituitary Hormone Deficiency Overview. GeneReviews®.
• Heterozygous SOX2 deletions in patients with congenital nystagmus.

These articles and many others available on PubMed contribute to a better understanding of the SOX2 gene, its functions, and its involvement in various genetic and developmental conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic conditions and the genes associated with them. This catalog serves as a valuable resource for scientists, clinicians, and health professionals in understanding the genetic basis of various diseases and syndromes.

The catalog includes information about the SOX2 gene, which is associated with various conditions such as anophthalmia, microphthalmia, and septo-optic dysplasia. Mutations or changes in this gene can lead to deficiencies or abnormalities in the development of the eyes, pituitary gland, and other related structures.

Genes listed in the catalog are categorized based on the proteins they code for and the diseases or syndromes they are associated with. For example, the SOX2 gene is associated with the SOX2-related eye disorders, which include conditions like anophthalmia, microphthalmia, and coloboma. These conditions can be diagnosed through genetic testing, and the catalog provides information about the specific genetic tests available for these disorders.

Additionally, the catalog provides references to scientific articles, PubMed resources, and other related databases that contain further information about the SOX2 gene and associated syndromes. This allows researchers and health professionals to access additional information and stay updated with the latest advancements in the field.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for understanding the genetic basis of various conditions and syndromes. It provides information about genes, associated diseases, genetic tests, and references to scientific articles, making it an essential tool for scientific and clinical research in the field of genetics.

Gene and Variant Databases

There are several gene and variant databases available to provide information on the SOX2 gene and related genetic variants. These databases contain valuable resources for clinicians, researchers, and individuals interested in learning about the gene and its associated disorders.

1. Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the SOX2 gene and its associated conditions, such as anophthalmia, microphthalmia, and septo-optic dysplasia. OMIM lists the names of related genes, proteins, and references to scientific articles.

2. PubMed: PubMed is a database of scientific articles and studies. It contains a vast collection of articles on the SOX2 gene, its functions, and associated diseases. Researchers and healthcare professionals can find additional information about the gene and its variants through PubMed.

3. ClinVar: ClinVar is a freely accessible database that collects information about genetic variants and their relationship to diseases. It provides a comprehensive resource for genetic testing laboratories and researchers to interpret the significance of genetic changes in the SOX2 gene.

4. SOX2 Variants Registry: The SOX2 Variants Registry is a specialized database focused on collecting information specifically about SOX2 gene variants. It aims to facilitate research and genetic testing for individuals with SOX2-related disorders such as anophthalmia, microphthalmia, and pituitary hormone deficiency. The registry provides a platform for sharing and exchanging information about SOX2 variants.

5. Genetic Testing Registry (GTR): GTR is a central location for information about genetic tests. It allows individuals and healthcare professionals to search for available genetic tests for specific genes and conditions, including SOX2-related disorders. GTR provides information about the purpose of the test, the laboratory offering the test, and clinical validity.

6. Additional Resources: There are also other gene and variant databases that may have information on the SOX2 gene, such as the Human Gene Mutation Database (HGMD) and the Universal Protein Resource (UniProt). These resources can provide additional information on gene variants, proteins, and diseases associated with SOX2.

In summary, gene and variant databases play a crucial role in providing valuable information about the SOX2 gene, its genetic variants, and associated diseases. These databases help researchers, clinicians, and individuals access up-to-date information, contribute to research efforts, and aid in the diagnosis and management of SOX2-related conditions.

References

• Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2011 Jun;95(6):895-900. doi: 10.1136/bjo.2010.187252. Epub 2011 Feb 4. PMID: 21297112.
• Kelberman D, Rizzoti K, Avilion A, Watkins P, Christoforou-Bakker M, Rutter M, Boelaert K, Van Esch H, Janssens S, Karperien M, Brouwers MM, Zhou H, van’s Gravenmade JJ, Chrysis D, Underwood T, Benedetti E, Fulford AJ, Gergics P, Beales PL, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Apr;116(9):2442-55. doi: 10.1172/JCI28658. PMID: 16981006; PMCID: PMC1569501.
• Higashi Y, Maruhashi T, Nishikawa S, Kawakami H. Epstein CJ, Yamada M, Reece EA. Microphthalmia with coloboma, nasal abnormality and renal defect in 13q- syndrome. Jpn J Ophthalmol. 1988;32(3):304–310. doi:10.1007/BF02141027
• PUBMED: Search results for “SOX2 gene”

1. SOX2 gene and related conditions. Genetics Home Reference. U.S. National Library of Medicine.
2. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2011 Jun;95(6):895-900. doi: 10.1136/bjo.2010.187252. Epub 2011 Feb 4. PMID: 21297112.
3. Kelberman D, Rizzoti K, Avilion A, Watkins P, Christoforou-Bakker M, Rutter M, Boelaert K, Van Esch H, Janssens S, Karperien M, Brouwers MM, Zhou H, van’s Gravenmade JJ, Chrysis D, Underwood T, Benedetti E, Fulford AJ, Gergics P, Beales PL, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Apr;116(9):2442-55. doi: 10.1172/JCI28658. PMID: 16981006; PMCID: PMC1569501.
4. Higashi Y, Maruhashi T, Nishikawa S, Kawakami H. Epstein CJ, Yamada M, Reece EA. Microphthalmia with coloboma, nasal abnormality and renal defect in 13q- syndrome. Jpn J Ophthalmol. 1988;32(3):304–310. doi:10.1007/BF02141027

1. SOX2 gene and related conditions. Online Mendelian Inheritance in Man. Johns Hopkins University.
2. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2011 Jun;95(6):895-900. doi: 10.1136/bjo.2010.187252. Epub 2011 Feb 4. PMID: 21297112.
3. Kelberman D, Rizzoti K, Avilion A, Watkins P, Christoforou-Bakker M, Rutter M, Boelaert K, Van Esch H, Janssens S, Karperien M, Brouwers MM, Zhou H, van’s Gravenmade JJ, Chrysis D, Underwood T, Benedetti E, Fulford AJ, Gergics P, Beales PL, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Apr;116(9):2442-55. doi: 10.1172/JCI28658. PMID: 16981006; PMCID: PMC1569501.
4. Higashi Y, Maruhashi T, Nishikawa S, Kawakami H. Epstein CJ, Yamada M, Reece EA. Microphthalmia with coloboma, nasal abnormality and renal defect in 13q- syndrome. Jpn J Ophthalmol. 1988;32(3):304–310. doi:10.1007/BF02141027

1. SOX2 gene and related conditions. Genetics Home Reference. U.S. National Library of Medicine.
2. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2011 Jun;95(6):895-900. doi: 10.1136/bjo.2010.187252. Epub 2011 Feb 4. PMID: 21297112.
3. Kelberman D, Rizzoti K, Avilion A, Watkins P, Christoforou-Bakker M, Rutter M, Boelaert K, Van Esch H, Janssens S, Karperien M, Brouwers MM, Zhou H, van’s Gravenmade JJ, Chrysis D, Underwood T, Benedetti E, Fulford AJ, Gergics P, Beales PL, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006 Apr;116(9):2442-55. doi: 10.1172/JCI28658. PMID: 16981006; PMCID: PMC1569501.