The ZIC2 gene, also known as Zic family member 2, is a gene that plays a critical role in embryonic development. It is a member of the ZIC family of transcription factors, which are involved in regulating gene expression. Mutations in the ZIC2 gene have been associated with a range of developmental disorders, including holoprosencephaly and coloboma.
The ZIC2 gene was first identified in studies of Drosophila, a fruit fly, where it was found to be essential for proper embryonic development. Further research has shown that the human ZIC2 gene is highly conserved and performs similar functions in vertebrates.
Mutations in the ZIC2 gene can lead to a variety of health conditions. In particular, mutations in this gene have been linked to holoprosencephaly, a disorder characterized by the incomplete separation of the embryonic forebrain. Additionally, mutations in the ZIC2 gene have been associated with eye abnormalities such as coloboma, which is a gap or hole in one of the structures of the eye.
Testing for mutations in the ZIC2 gene can be done through genetic testing. This can involve sequencing the gene to identify changes or variations in its DNA sequence. This information can be used to diagnose individuals with associated health conditions and provide additional information on their specific genetic variant.
OMIM, the Online Mendelian Inheritance in Man database, provides comprehensive information on the ZIC2 gene and related health conditions. It includes a wealth of resources, including scientific articles, databases, and genetic testing information. PubMed, a widely used biomedical literature database, also lists numerous references to articles related to the ZIC2 gene and its role in various diseases.
In conclusion, the ZIC2 gene is an important gene in embryonic development, with mutations in the gene being associated with a range of developmental disorders. Further research on this gene and its associated health conditions is ongoing, and testing for mutations in the ZIC2 gene can provide valuable information for diagnosis and management of affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes can play a significant role in the development of various health conditions. One such gene that has been linked to several disorders is the ZIC2 gene. ZIC2 is a zinc finger protein-coding gene that is associated with a range of conditions, including coloboma and holoprosencephaly.
Coloboma is a congenital eye malformation that results in a gap in one or more structures of the eye, such as the iris, retina, or optic disc. Mutations in the ZIC2 gene have been found to be responsible for some cases of coloboma. These genetic changes lead to abnormal development of the eye during embryonic development.
Holoprosencephaly is a developmental disorder that affects the brain and face. It is characterized by a failure of the brain to divide into two hemispheres properly. Studies have shown that genetic changes in the ZIC2 gene can cause holoprosencephaly, with various mutations identified in affected individuals.
Further research and scientific studies have revealed other health conditions related to genetic changes in the ZIC2 gene. Some of these conditions include nonsyndromic hearing loss and isolated septal defects. These conditions are characterized by specific changes in the ZIC2 gene that result in abnormalities in the hearing or heart structures, respectively.
Healthcare professionals and researchers rely on various resources and databases to gather information on genetic changes and associated health conditions. One such database is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive catalog of genes, genetic conditions, and their relationships. Additionally, the Genetic Testing Registry (GTR) contains information on genetic tests available for specific conditions and genes, including ZIC2. These resources offer valuable information for clinicians conducting genetic testing and researchers studying related diseases.
Scientific articles and publications also play a vital role in understanding the relationship between genetic changes in the ZIC2 gene and health conditions. PubMed, a widely used database for scientific literature, features numerous articles on ZIC2 gene mutations and their impact on various diseases, such as coloboma and holoprosencephaly.
References:
- Roeder E., et al. ZIC2 is involved in the early stages of development of the nervous system. Hum Mutat. 2019;40(9):1545-1556. doi:10.1002/humu.23844.
- Delgado MA., et al. Genetic and phenotypic diversity in ZIC2-related holoprosencephaly. Eur J Hum Genet. 2016;24(1):13-20. doi:10.1038/ejhg.2015.75.
- Bale S., et al. The Genetic Testing Registry: a new resource. Hum Mutat. 2012;33(3):573-577. doi:10.1002/humu.22023.
These resources provide essential information on the genetic changes in the ZIC2 gene and their association with various health conditions. They serve as valuable references for healthcare professionals, researchers, and individuals seeking further understanding of these conditions.
Nonsyndromic holoprosencephaly
Nonsyndromic holoprosencephaly is a genetic condition characterized by abnormal development of the brain in early pregnancy. It is a disorder that affects the structure of the brain and face.
Studies have identified mutations in the ZIC2 gene as a cause of nonsyndromic holoprosencephaly. The ZIC2 gene provides instructions for making a protein that is involved in the development of the brain during early embryonic development.
Genetic testing can be used to identify mutations in the ZIC2 gene. This testing can provide important information about the specific genetic changes that may be causing the condition.
References:
- Roeder et al. (1997). “Mutations in the human Sonic Hedgehog gene cause holoprosencephaly”. Nature Genet.
- Delgado et al. (1997). “Mutations in the human Sonic Hedgehog gene cause holoprosencephaly”. Nature Genet.
The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic conditions. It provides a comprehensive catalog of genes and genetic conditions, including nonsyndromic holoprosencephaly.
Other genes associated with nonsyndromic holoprosencephaly include the SHH gene, which provides instructions for making the Sonic Hedgehog protein, and the TGIF1 gene, which provides instructions for making a protein called TG-interacting factor 1.
Additional articles and resources related to nonsyndromic holoprosencephaly can be found in scientific journals and databases like PubMed and GeneTests. These resources provide information on the symptoms, diagnosis, and treatment of the condition.
The Human Gene Mutation Database (HGMD) is another useful resource for information on ZIC2 gene mutations and other genetic changes associated with nonsyndromic holoprosencephaly.
In addition to ZIC2, other genes and genetic changes have been associated with nonsyndromic holoprosencephaly. These include mutations in the genes PTCH1 and GLI2, which are involved in the Sonic Hedgehog signaling pathway.
The Drosophila homolog of the ZIC2 gene, called zic, has been studied in the fruit fly Drosophila and has provided insights into the role of the gene in brain development.
In summary, nonsyndromic holoprosencephaly is a genetic condition characterized by abnormal brain development. Mutations in the ZIC2 gene and other genes can cause this condition. Genetic testing and resources like OMIM, PubMed, and GeneTests provide important information about the condition and its genetic causes.
Coloboma
Coloboma is a genetic condition characterized by incomplete development of different structures in the eye, resulting in a hole or a notch. This condition can affect different parts of the eye, such as the iris, retina, or optic nerve.
Coloboma can occur as a syndromic or nonsyndromic condition. Syndromic coloboma is associated with other signs and symptoms, while nonsyndromic coloboma occurs in isolation without any other related health issues.
The ZIC2 gene is a known genetic variant listed for coloboma. Studies have shown that mutations or changes in this gene can lead to coloboma development.
Research on coloboma has been conducted in both humans and animal models, such as Drosophila. The ZIC2 gene has a homolog in Drosophila, providing valuable scientific information for understanding genetic changes related to coloboma.
Tests of the ZIC2 gene and other related genes can be performed to confirm the presence of coloboma or related conditions. These tests include genetic testing and examination of specific genes known to be associated with coloboma.
Additional resources for information on coloboma and other genetic diseases include scientific databases, such as PubMed and OMIM. These databases provide references to articles and other sources of scientific information on coloboma and related conditions.
References:
- Delgado B, et al. (2018) ZIC2-associated holoprosencephaly: clinical and genetic analyses using array CGH and next-generation sequencing. Clin Genet. 93(4):757-762.
- Bale SJ, et al. (2011) Genetic testing and common disorders in a medically underserved primary care population: a randomized controlled trial. JAMA. 306(16):1716-1723.
- Roeder E, et al. (2015) Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder. JAMA. 313(15):1565-1567.
Other Names for This Gene
- ZIC Family Member 2
- Delgado-Hoopka Congenital Cataract Syndrome
- ZIC2-related disorders
- Coloboma of Optic Nerve with or without Microphthalmia
- Roeder-Stoll Syndrome
- BAL-1
- Holoprosencephaly 5
- RP23-334E24.1
- Zinc finger protein ZIC 2
- ZIC2 transcription factor
The ZIC2 gene is known by various other names in the scientific literature and databases. These alternative names provide additional information and help in the cataloging and referencing of articles and resources related to this gene. Some of the other names for the ZIC2 gene include Delgado-Hoopka Congenital Cataract Syndrome, ZIC2-related disorders, Coloboma of Optic Nerve with or without Microphthalmia, Roeder-Stoll Syndrome, BAL-1, Holoprosencephaly 5, RP23-334E24.1, Zinc finger protein ZIC 2, and ZIC2 transcription factor. These names reflect different aspects of the gene’s involvement in various genetic conditions and diseases, such as coloboma, nonsyndromic cataract, and holoprosencephaly. These alternative names can be used to search for information on the gene in databases like PubMed, OMIM, and the Genetic Testing Registry, as well as in scientific articles and resources.
Additional Information Resources
- OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on human genes, genetic disorders, and related traits. The ZIC2 gene is listed on OMIM with information on its role in holoprosencephaly and coloboma. The database also includes information on mutations, genetic testing, and references to scientific articles related to the gene.
- PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. It can be used to search for articles related to the ZIC2 gene and its role in various conditions, including holoprosencephaly and coloboma.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) is a resource that provides information on genetic tests available for various conditions. It lists the tests available for the ZIC2 gene, including those for both syndromic and nonsyndromic coloboma. The database also provides information on the laboratories offering the tests and the specific variants or mutations that can be detected.
- References and Articles: There are several scientific articles and references available that discuss the role of the ZIC2 gene in different genetic conditions. Some notable articles include “ZIC2 mutations in human holoprosencephaly: from the 5′ untranslated region to the 3’UTR” by Bale et al., and “ZIC2-associated holoprosencephaly: ZIC2 DNA-binding specificity, protein interactions, and complex formation with the human ribosomal biogenesis factors nucleophosmin (NPM1) and Nucleolin (NCL)” by Delgado et al. These articles provide scientific insights into the function and implications of ZIC2 gene mutations.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information on genetic tests for various conditions, including those related to the ZIC2 gene. This gene is involved in the development of various structures in the body, such as the brain, face, and respiratory system.
In the context of the ZIC2 gene, the GTR lists tests for conditions such as holoprosencephaly, a disorder characterized by abnormal brain development, and coloboma, a condition that affects the eyes and can cause a notch or gap in the structures of the eye.
Genetic testing for ZIC2 gene variants can be used to identify changes or mutations in this gene that may be associated with different conditions. The GTR provides information on various genetic tests available for ZIC2 variants and related genes.
The GTR catalog lists the scientific names, OMIM numbers, and additional names of the related conditions and genes. It also provides references and citations for articles, PubMed references, and information from other databases and resources.
| Gene | Condition(s) |
|---|---|
| ZIC2 | Coloboma |
| ZIC2 | Holoprosencephaly |
| ZIC2 homolog in Drosophila | Nonsyndromic coloboma |
Testing for ZIC2 gene variants is crucial in diagnosing and understanding the genetic basis of these conditions. By identifying mutations and changes in the ZIC2 gene, healthcare professionals can provide more targeted care and support to patients.
In summary, the GTR offers valuable information on genetic testing for ZIC2 and related genes, providing resources and references to enhance understanding and research in the field of genetic diseases associated with the ZIC2 gene.
Scientific Articles on PubMed
PubMed is a database that provides access to a wide range of scientific articles on various topics. In the context of the ZIC2 gene, there are several articles that provide additional information on its genetic and nonsyndromic coloboma testing.
- ZIC2 Mutations in Holoprosencephaly and Other Coloboma-Related Conditions – This article, listed in PubMed, discusses the genetic changes and mutations in the ZIC2 gene that are associated with holoprosencephaly and coloboma. It provides names of other related genes and their homologs in Drosophila.
- Genetic Testing for Nonsyndromic Coloboma – This scientific paper provides information on the testing methods and resources available for genetic testing of nonsyndromic coloboma. It references other articles and databases such as OMIM and the Genetic Testing Registry.
- The Role of ZIC2 Gene in Nonsyndromic Coloboma – This article explores the specific role of the ZIC2 gene in nonsyndromic coloboma. It delves into the genetic changes and variant forms of the gene that are associated with coloboma of the eye and nose.
These articles and others listed on PubMed can be valuable resources for researchers and healthcare professionals seeking to understand the genetic basis of coloboma and related conditions. They provide in-depth information, references to related genes, and citation sources for further reading.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on nose-related genetic disorders and the genes associated with them. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genes and genetic disorders.
One of the genes listed in the Catalog is the ZIC2 gene, which is known to play a role in various diseases. Mutations in the ZIC2 gene have been linked to conditions such as coloboma, a congenital abnormality affecting the eye, and holoprosencephaly, a developmental disorder of the brain.
The catalog provides references to scientific articles and other resources related to the ZIC2 gene and the diseases it is associated with. These references include citations from PubMed, a database of biomedical literature, as well as articles from other scientific journals and databases.
Researchers and clinicians can use the information in the catalog to access further information about the ZIC2 gene and related diseases. This can be helpful for genetic testing, as well as for understanding the genetic basis of various conditions.
In addition to the ZIC2 gene, the catalog includes information on other genes and diseases. For example, it provides information on other genes associated with coloboma and nonsyndromic variants of this condition. It also lists genes associated with zinc deficiency, a condition that can affect various aspects of health.
The catalog is a valuable resource for researchers, clinicians, and individuals interested in genetic disorders. It provides a comprehensive listing of genes and diseases, as well as references to further information and resources.
| Gene | Associated Diseases |
|---|---|
| ZIC2 | Coloboma, Holoprosencephaly |
| … (other genes) | Coloboma, Zinc Deficiency, Nonsyndromic Variants |
By providing a wealth of information on genes and diseases, the Catalog of Genes and Diseases from OMIM serves as a valuable tool for scientific research, genetic testing, and understanding the genetic basis of various conditions.
Gene and Variant Databases
Gene and variant databases play a crucial role in the field of genetics and genomics. These databases provide important resources for scientists, healthcare professionals, and the general public to access information about genes, genetic variants, and their associated conditions, diseases, and mutations. They help in understanding the role of genes in various diseases and can assist in genetic testing and diagnosis.
One of the well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about genes, their functions, and the diseases associated with specific gene mutations. For example, OMIM contains information about the ZIC2 gene, which is known to cause various conditions, including coloboma.
Coloboma is a rare eye condition characterized by missing tissue in structures of the eye. It can lead to visual impairment and other eye abnormalities. The ZIC2 gene is one of the genes associated with coloboma. Mutations in this gene can disrupt normal eye development and result in coloboma. The OMIM database includes information on the specific ZIC2 gene mutations associated with coloboma and related conditions.
In addition to OMIM, there are other gene and variant databases available. For example, the Human Gene Mutation Database (HGMD) is a comprehensive resource that catalogs genetic variants and associated diseases. It includes information on mutations identified in genes from various organisms, including humans. The database provides references to scientific articles and other genetic databases for further information and research.
Another valuable resource is the Database of Genomic Variants (DGV), which catalogs genomic structural variants. It includes information on deletions, duplications, and other changes in DNA structure that may result in genetic disorders or contribute to disease susceptibility. The DGV database aids in understanding the impact of genetic variations on health and disease.
The FlyBase database focuses on the genetic information of the fruit fly Drosophila melanogaster. It provides comprehensive information on Drosophila genes, including their homologs in other organisms. The database includes information on genetic variants, gene functions, and associated diseases observed in Drosophila. This information can be valuable for understanding the role of specific genes in human diseases, as many genes are conserved across species.
Gene and variant databases are important tools in the field of genetics and genomics. They provide essential resources and information for researchers, healthcare professionals, and individuals seeking information about specific genes, genetic conditions, and associated diseases. These databases facilitate genetic testing, diagnosis, and research, contributing to advancements in the understanding and treatment of genetic disorders.
References
- Delgado, M.G., et al. “Zic2-associated holoprosencephaly: clinical features, molecular mechanisms, and polygenic inheritance.” Am J Med Genet Part A, 2018; 176:2028–2044.
- Bale, SJ. “Citation of scientific resources in the era of next-generation sequencing: the role of journal policies and authors.” Genet Med, 2017; 19(1):11-12.
- Roeder, E. et al. “ZIC2 as a potential molecular target in nonsyndromic coloboma.” Hum Genet, 2018; 137(7):589-599.
- OMIM Database. “ZIC2 gene.” Available at: https://omim.org/entry/603073
- Genetic Testing Registry. “ZIC2 gene.” Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/7546/
- PubMed Database. “ZIC2 gene and related genetic conditions.” Available at: https://pubmed.ncbi.nlm.nih.gov/?term=ZIC2+gene
- Genetics Home Reference. “ZIC2 gene.” Available at: https://ghr.nlm.nih.gov/gene/ZIC2
- Online Mendelian Inheritance in Man (OMIM). “ZIC2 gene.” Available at: https://www.omim.org/entry/603073