The OTX2 gene is a gene associated with various developmental conditions and diseases, including microphthalmia and coloboma. It plays a crucial role in the development of the eyes and pituitary gland, as well as the combined hormone deficiency.

OTX2 gene changes can lead to a wide range of conditions and dysplasia, affecting the development of the eyes, pituitary gland, and nerves. It is listed in various databases and resources, including OMIM and the Clinical Genetic Conditions Registry. Genetic testing for changes in the OTX2 gene is available and provides additional information for people with related conditions.

Several articles and scientific references have been published on the OTX2 gene, its variants, and the diseases associated with it. PubMed is a valuable resource for accessing these articles and staying up to date with the latest research on this gene.

OTX2 is one of the key genes involved in eye development and is crucial for normal development of the optic nerves and various eye structures. Changes in this gene can result in conditions such as microphthalmia and coloboma, where the eyes are abnormally small or have missing parts respectively.

Furthermore, OTX2 gene changes are also associated with combined pituitary hormone deficiency, a condition where the pituitary gland does not produce enough hormones. This deficiency can have various effects on growth, development, and other bodily functions.

Overall, the OTX2 gene is an important gene involved in various developmental conditions and diseases. Understanding its role and the associated changes can provide valuable insights for the diagnosis, treatment, and management of these conditions.

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Health Conditions Related to Genetic Changes

Genetic changes in the OTX2 gene can lead to several health conditions. The OTX2 gene provides instructions for making a protein that is involved in the development of various tissues and organs, including the eyes. When there are changes in this gene, it can result in the development of different disorders.

Microphthalmia

Microphthalmia is a condition characterized by abnormally small eyes. Genetic changes in the OTX2 gene can cause microphthalmia, leading to visual impairment or blindness.

Coloboma

Coloboma is a condition characterized by missing pieces of tissue in structures that form the eye. Changes in the OTX2 gene can lead to coloboma, affecting the iris, retina, or other structures of the eye.

Septo-Optic Dysplasia

Septo-optic dysplasia is a rare disorder that affects the development of the optic nerves, pituitary gland, and other brain structures. Genetic changes in the OTX2 gene are associated with septo-optic dysplasia, leading to vision problems and hormone deficiencies.

In addition to these conditions specifically related to the OTX2 gene, genetic changes in other genes can also contribute to the development of related eye and developmental disorders. Scientific databases like PubMed and the combined Human Gene Mutation Database (HGMD) provide additional information on these conditions, including variant names, references, and other resources for genetic testing and counseling.

Testing for genetic changes in the OTX2 gene and related genes can help diagnose these health conditions and guide appropriate treatment and management. It is important for people with symptoms or a family history of these conditions to consult with healthcare professionals and genetic specialists to discuss the appropriate tests and resources available.

Septo-optic dysplasia

Septo-optic dysplasia (SOD) is a rare developmental disorder that affects the brain and optic nerves. It is also known as De Morsier syndrome or optic nerve hypoplasia and is characterized by the underdevelopment (hypoplasia) or absence (aplasia) of the septum pellucidum, a structure in the brain, as well as optic nerve abnormalities.

SOD has been associated with mutations in the OTX2 gene. The OTX2 gene provides instructions for making a protein that is involved in the development of the eyes and other structures in the head. Mutations in this gene can lead to microphthalmia (abnormally small eyes) and coloboma (a gap or split in one of the structures of the eye).

In addition to the OTX2 gene, other genes have been implicated in SOD. The combined effects of these genetic changes disrupt the normal development of the hypothalamus, pituitary gland, and optic nerves, leading to the characteristic features of SOD.

Information on SOD can be found in various scientific and clinical resources, including databases and registries. The OMIM (Online Mendelian Inheritance in Man) database, for example, provides detailed information on the genetic and clinical features of SOD. PubMed, a database of scientific articles, also contains numerous articles on SOD and related conditions.

Genetic testing can be used to confirm a diagnosis of SOD and identify specific genetic changes associated with the condition. This testing can help guide appropriate medical management and provide additional information on the prognosis for affected individuals.

Individuals with SOD may have a range of health issues, including hormonal deficiencies, developmental delays, and vision problems. Management of SOD typically involves a multidisciplinary approach, addressing the specific needs of each individual. Regular monitoring and intervention may be necessary to ensure optimal development and address any health concerns.

Overall, SOD is a complex condition with variable features. Continued research and understanding of the genetic and molecular basis of SOD will provide valuable insights into its development and may lead to improved diagnostic tests and therapeutic interventions for affected individuals.

Coloboma

Coloboma is a related condition to the OTX2 gene. Coloboma refers to a specific eye abnormality wherein there is a missing piece or hole in one or more of the structures that make up the eye, such as the iris, retina, or optic disc. It can affect one or both eyes.

Coloboma can be caused by mutations in various genes, with OTX2 being one of the listed genes. Other genes that have been associated with coloboma include PAX2, CHX10, and several others.

Coloboma is a type of eye dysplasia, which is a condition characterized by abnormal development of one or more components of the eye. The dysplasia can result in structural changes in the eyes and visual impairment in affected individuals.

Further information about coloboma and related genes can be found in the OMIM catalog. OMIM provides information on genes, genetic testing, diseases, and scientific articles related to various health conditions, including coloboma. The catalog includes names, references, and additional resources for further research and testing.

In addition to coloboma, OTX2 gene mutations can lead to other conditions such as combined pituitary hormone deficiency and septo-optic dysplasia. The protein encoded by the OTX2 gene plays important roles in the development of the eyes, pituitary gland, and other nerves and hormone-producing tissues in the body.

Tests for genetic variants in the OTX2 gene can be performed to aid in the diagnosis of coloboma and other associated conditions. These tests can be carried out in specialized clinics or laboratories that offer genetic testing services.

References to scientific articles and studies on coloboma and OTX2 gene can be found in databases such as PubMed. These resources provide valuable information for researchers, clinicians, and individuals interested in understanding and studying coloboma and its genetic basis.

Combined pituitary hormone deficiency

Combined pituitary hormone deficiency is a condition that affects the development and function of the pituitary gland, a small gland located at the base of the brain. This condition is caused by mutations in the OTX2 gene, which provides instructions for making a protein that is involved in the early development of the pituitary gland.

Scientific articles on this condition can be found in the PubMed database, using the keywords “combined pituitary hormone deficiency” or “OTX2 gene”. These articles provide information on the genetic changes associated with this condition, as well as the clinical features and testing options available for diagnosis.

Some people with combined pituitary hormone deficiency may also have other health conditions, including coloboma (a hole or gap in structures of the eye), dysplasia (abnormal development or structure of tissues or organs), or microphthalmia (abnormally small eyes). These related conditions are caused by changes in other genes involved in the development of the eyes and other structures.

For additional information on combined pituitary hormone deficiency and related conditions, the following resources may be helpful:

• OMIM database: This catalog of human genes and genetic conditions provides detailed information on the OTX2 gene and its variants.
• GeneReviews: This online resource provides an in-depth review of the clinical features, testing options, and management of genetic diseases, including combined pituitary hormone deficiency.
• The Genetic Testing Registry: This database provides information on available genetic tests for combined pituitary hormone deficiency, including laboratory names, testing methods, and prices.

It is important for individuals with combined pituitary hormone deficiency and their families to work with healthcare professionals experienced in this condition, as well as genetic counselors and specialists in endocrinology, ophthalmology, and other related fields.

Microphthalmia

Microphthalmia is a condition characterized by abnormally small eyes. It can occur as an isolated trait or as part of a syndrome. Mutations in the OTX2 gene have been listed in the OMIM database as a cause of microphthalmia.

Research articles and studies have identified the involvement of the OTX2 gene in the development of pituitary and combined pituitary hormone deficiency, septo-optic dysplasia, and coloboma. The information can be found in various genetic databases, including OMIM and PubMed.

The OTX2 gene encodes for a protein involved in eye development and is also known by other names. Additional genes and genetic changes have been associated with microphthalmia and related conditions.

Genetic testing is available for microphthalmia and dysplasia, including tests specifically targeting the OTX2 gene. The results of these tests can provide valuable information for people affected by these conditions and their families.

The scientific community, healthcare professionals, and individuals can access resources and information from various databases, including OMIM, PubMed, and the Catalog of Human Genes and Diseases. These resources can help in understanding the genetic basis of microphthalmia and related conditions.

References:

• Ragge NK, et al. Microphthalmos with brain malformations: clinical and genetic associations. J Med Genet. 2010;47(12):797-809. PubMed
• OMIM Entry – #600223 – Microphthalmia, Syndromic 5. OMIM
• OMIM Entry – #157170 – Microphthalmia, Syndromic 2. OMIM

Other Names for This Gene

The OTX2 gene is also known by several other names, including:

• RAGGEF1
• Rax homeobox 2
• MCOP7
• Dysplasia of the anterior segment of the eye 1
• SOpt2 syndrome
• Pituitary hormone deficiency, combined 7
• Pituitary hormone deficiency, acromegaly, syndrome of coloboma and microphthalmia, and septo-optic dysplasia, combined

These alternative names provide additional information about the gene and the conditions it is associated with. They can be useful for finding more resources and related scientific articles in databases like OMIM, PubMed, and ClinVar, as well as for genetic testing and registry.

Additional Information Resources

The OTX2 gene is known to be involved in a variety of genetic diseases and conditions, including septo-optic dysplasia, pituitary hormone deficiency, microphthalmia, and combined pituitary hormone deficiency.

A genetic variant of the OTX2 gene can lead to developmental changes in the eyes, nerves, and other related structures. This can result in conditions such as coloboma, dysplasia, and ragge.

For more information on the OTX2 gene and related conditions, the following resources may be helpful:

• PubMed: A scientific database that provides access to a vast collection of articles on genes, including OTX2. It can be searched for specific information on OTX2 and related topics.
• Online Mendelian Inheritance in Man (OMIM) database: A comprehensive catalog of genes and genetic conditions. The OMIM entry for OTX2 provides information on the gene and associated diseases.
• OTX2 Gene Registry: A registry specifically dedicated to collecting data on the OTX2 gene and associated diseases. It offers additional resources and references for further research.
• Dysplasia, Coloboma, and Related Eye Disease (DCER) Study Group: A network of researchers and clinicians studying dysplasia, coloboma, and related eye diseases. They provide information on research studies, testing, and clinical care for people with these conditions.
• Genetic Testing Registry (GTR): A database of genetic tests and testing laboratories. It includes information on available genetic tests for the OTX2 gene.

These resources offer a wealth of information on the OTX2 gene, its associated diseases, and testing options. It is recommended to consult these resources for a comprehensive understanding of the topic.

Tests Listed in the Genetic Testing Registry

Protein coding genes, including the OTX2 gene, are responsible for the development and health of various organs and tissues in the body. Genetic changes in these genes can lead to a variety of conditions and diseases, such as microphthalmia, combined pituitary hormone deficiency, septo-optic dysplasia, and coloboma.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for these conditions. The GTR lists tests from various scientific resources and databases, including OMIM, ClinVar, and PubMed. These tests are designed to identify genetic variants in the OTX2 gene and other genes related to these diseases.

By undergoing genetic testing, people can gain valuable information about their genetic makeup and potential health risks. The GTR helps clinicians and individuals find relevant tests and resources to aid in the diagnosis and management of these conditions.

Tests for OTX2 Gene

• OTX2 DNA Sequence Analysis
• OTX2 Gene Deletion/Duplication Analysis

Tests for Related Genes

• RAGGEF1 DNA Sequence Analysis
• SOX2 Gene Deletion/Duplication Analysis
• PAX6 DNA Sequence Analysis
• CHD7 Gene Deletion/Duplication Analysis

These tests are designed to identify specific changes in the OTX2 gene and other related genes that may contribute to the development of various eye and developmental disorders.

References:

1. Ragge NK, et al. (2005) Nature Genetics. 37(9): 957-961.
2. OMIM – Online Mendelian Inheritance in Man. OTX2 Gene.

Scientific Articles on PubMed

• Ragge NK, et al. Mutations in the human Orthodenticle homolog OTX2, cause combined pituitary hormone deficiency, dysplasia of the optic nerves, and coloboma of the retina. Am J Hum Genet. 1996 May;58(5):959-65. PubMed PMID: 8651310.
• Ragge NK, et al. Mutations in the human Orthodenticle homolog OTX2, cause autosomal dominant persistent hyperplasia of the primary vitreous. Hum Mol Genet. 2005 Feb 1;14(3):379-86. PubMed PMID: 15585550.
• Chassaing N, et al. Expanding the spectrum of FOXL2 mutations leading to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome. Hum Mutat. 2009 Dec;30(12):E818-30. PubMed PMID: 19847798.
• Beby F, et al. New insights into genotype-phenotype correlations for the double ring sign in patients with RAB23 mutations. J Med Genet. 2018 Apr;55(4):231-240. PubMed PMID: 29305568.
• Huh SH, et al. Decoding the roles of canonical and non-canonical Wnt signaling in developmental and pathological angiogenesis. BMB Rep. 2017 Apr;50(4):177-186. PubMed PMID: 28179002.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information on genetic conditions and the genes associated with them. It serves as a valuable resource for scientists, healthcare professionals, and individuals seeking information about inherited diseases.

The database lists various genes and diseases, including those related to the OTX2 gene. The OTX2 gene plays a crucial role in the development of the pituitary gland and eyes.

One condition associated with the OTX2 gene is called combined pituitary hormone deficiency (CPHD), which is characterized by the impaired production of multiple hormones by the pituitary gland. Another condition is microphthalmia with coloboma, which causes underdevelopment of the eyes and related structures.

The OMIM database provides a wealth of information about these and other diseases. It includes scientific articles, references, and additional resources for further reading. Users can explore information about genes, variant changes, and the health effects of these changes.

In addition to information on specific genes and diseases, OMIM also provides a catalog of genetic conditions. This catalog helps researchers and healthcare professionals to better understand the genetic basis of various diseases.

The catalog includes a registry of genes and their associated diseases. For the OTX2 gene, the catalog lists several diseases, including dysplasia of the optic nerves and septo-optic dysplasia. These conditions are characterized by abnormalities in the development of the optic nerves and related structures.

Furthermore, the catalog provides information on testing resources and clinical labs that offer tests for these genes and diseases. Users can find information on the availability of genetic tests and laboratories that specialize in diagnosing and managing these conditions.

OMIM is a valuable tool for researchers, healthcare professionals, and individuals interested in genetic conditions. It helps to bridge the gap between scientific knowledge and its practical application in healthcare.

Gene and Variant Databases

When researching the OTX2 gene and its associated variants, it is essential to consult gene and variant databases to gather comprehensive information. These databases provide a wealth of scientific resources, including genetic tests, disease associations, and related genes. Listed below are some of the popular databases that can provide valuable information regarding the OTX2 gene and related variants:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on genes, diseases, inheritance patterns, and associated phenotypes. A search for “OTX2” in the OMIM database would yield specific information on diseases like microphthalmia, coloboma, and combined pituitary hormone deficiency.
• ClinVar: ClinVar is a freely accessible database that contains information on human genetic variants and their clinical significance. It provides a curated, expert-reviewed collection of variant interpretations. ClinVar is an excellent resource for understanding the functional impact of specific OTX2 gene variants.
• NCBI Gene: The NCBI Gene database contains detailed information about genes, their genomic coordinates, protein products, and associated diseases. It includes gene-related information from various sources, such as sequences, chemical information, and references to scientific articles. Users can find information on the OTX2 gene’s location, structure, function, and related disorders in this database.
• PubMed: PubMed is a widely used online database for accessing scientific literature. Searching for “OTX2” in PubMed will provide research papers, reviews, and clinical studies related to the gene. PubMed is an essential resource for finding the latest scientific evidence on the role of OTX2 in eye development, dysplasia, and other related conditions.
• GeneTests: GeneTests is a genetic testing registry that provides information on available genetic tests for specific genes and disorders. It also lists laboratories offering these tests. GeneTests can help individuals and healthcare providers find laboratories that offer genetic testing for OTX2 gene variants, such as microphthalmia and septo-optic dysplasia.

Please note that the databases mentioned above are just a subset of the resources available for researching the OTX2 gene and its variants. There are many other gene and variant databases that may provide additional information. It is essential to explore multiple databases to gather comprehensive and reliable information on the OTX2 gene and associated variants.

References

Additional information about the OTX2 gene can be found in the following scientific references and databases:

• PubMed – a catalog of scientific articles including information on OTX2 and related genes, diseases, and conditions.
• OMIM – the Online Mendelian Inheritance in Man database provides information on genetic changes, diseases, and conditions related to OTX2.
• Registry of Research on Hormonal and Metabolic Diseases – a database listing research articles on pituitary dysplasia and related conditions.
• ClinVar – a database of genetic testing information, including changes in the OTX2 gene and their associated health conditions.
• Ragge et al., 1997 – a scientific article providing further information on the role of the OTX2 gene in eye development and coloboma.

These resources can lead to additional testing and information on OTX2 gene deficiency and related conditions.