The ACTG1 gene is a protein-coding gene that is involved in the development and functioning of the central nervous system. It plays a crucial role in the formation of γ-actin, one of the two major actin proteins found in cells. Mutations in the ACTG1 gene have been linked to various genetic diseases and conditions, including nonsyndromic hearing loss, coloboma, and Baraitser-Winter syndrome.
Testing for changes in the ACTG1 gene is available in scientific research laboratories and can be used to diagnose or confirm a suspected genetic disorder. Articles and resources related to ACTG1 and its associated conditions can be found in scientific databases, such as PubMed and OMIM, which provide additional information and references for further study.
The ACTG1 gene is also listed in the Genetic Testing Registry, a comprehensive catalog of genetic tests and laboratories that offer testing for genetic variants and related conditions. This information can be useful for individuals seeking genetic testing or healthcare professionals looking for testing options.
Further research on the ACTG1 gene and its role in various diseases and conditions is ongoing, and new findings are regularly published in scientific journals. Keeping up-to-date with the latest research and information can help healthcare professionals provide better care and treatment options for patients with genetic disorders related to the ACTG1 gene.
Health Conditions Related to Genetic Changes
Genetic changes in the ACTG1 gene can lead to various health conditions. The ACTG1 gene provides instructions for making a protein called γ-actin, which is an essential component of cell structures called actin filaments. Actin filaments are responsible for maintaining the shape and structure of many cells, particularly in muscle cells.
Changes in the ACTG1 gene have been associated with both syndromic and nonsyndromic hearing loss. Syndromic hearing loss refers to hearing loss that is accompanied by other medical conditions, while nonsyndromic hearing loss refers to hearing loss without any additional symptoms or features.
Some specific health conditions related to genetic changes in the ACTG1 gene include:
- Nonsyndromic hearing loss: Mutations in the ACTG1 gene have been identified in individuals with nonsyndromic hearing loss, which can range from mild to severe. This genetic change affects the development or function of the inner ear, leading to hearing difficulties.
- Baraitser-Winter syndrome: This is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other features such as coloboma (a gap or hole in one of the structures of the eye). In some cases, mutations in the ACTG1 gene have been identified as a cause of Baraitser-Winter syndrome.
- Coloboma: Coloboma can occur as an isolated eye abnormality or as part of a syndrome. In some individuals with coloboma, genetic changes in the ACTG1 gene have been found.
Genetic testing for changes in the ACTG1 gene can be done to confirm a diagnosis of these health conditions. It is important to consult with a healthcare professional or a genetic counselor to understand the implications of test results and to discuss available treatment options.
Additional information on genetic changes in the ACTG1 gene and related health conditions can be found in scientific articles and databases. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides detailed information and references on various diseases associated with genetic changes in genes, including ACTG1. The Genetic Testing Registry (GTR) also catalogs information on genetic tests available for different diseases and genes, including ACTG1.
In summary, genetic changes in the ACTG1 gene can lead to various health conditions, including hearing loss and syndromes such as Baraitser-Winter syndrome. Genetic testing and resources like OMIM and GTR can provide valuable information for diagnosis and management of these conditions.
Baraitser-Winter syndrome
Baraitser-Winter syndrome (BWS) is a rare genetic syndrome characterized by a combination of distinct facial features, intellectual disabilities, and abnormalities in the brain, eyes, and ears.
Here are some key information and resources related to Baraitser-Winter syndrome:
| Genetic Changes | – BWS is caused by changes in the ACTG1 gene, which provides instructions for making gamma-actin, a protein that is essential for the development and functioning of various tissues in the body. |
| Syndrome Names | – Baraitser-Winter syndrome is also known by other names, including “Coloboma-hearing loss-mental retardation-facial dysmorphism syndrome,” and “Actin, gamma 1-related nonsyndromic intellectual disability.” |
| Related Genes | – In addition to the ACTG1 gene, there are other genes that have been found to be associated with similar conditions, such as beta-actin (ACTB) gene. |
| Scientific Articles and Databases | – PubMed and OMIM are good resources for finding scientific articles and information related to BWS. These databases contain references to articles, genetic tests, and other relevant information. |
| Testing and Diagnosis | – Genetic testing can be performed to identify changes in the ACTG1 gene or other related genes. The identification of these changes can help in confirming the diagnosis of BWS. |
| Resources and Additional Information | – The BWS Syndrome Registry provides resources and information for individuals and families affected by BWS. It offers a catalog of genetic tests, additional information on the syndrome, and references to scientific articles and studies related to BWS. |
Baraitser-Winter syndrome is a complex condition with a wide spectrum of symptoms and severity. Genetic changes in the ACTG1 gene, as well as other related genes, can result in various central nervous system, facial, and developmental abnormalities. Understanding the underlying genetic causes of BWS can help in better management and treatment of affected individuals.
Nonsyndromic hearing loss
Nonsyndromic hearing loss refers to hearing loss that occurs without the presence of other health conditions or developmental abnormalities. It is a genetic condition that affects the development or function of the inner ear, resulting in varying degrees of hearing loss.
ACTG1 is a gene that is associated with nonsyndromic hearing loss. This gene provides instructions for making a protein called gamma-actin, which is an essential component of the inner ear. Mutations or changes in the ACTG1 gene can disrupt the normal function of gamma-actin and lead to hearing loss.
Genetic testing is available to identify mutations in the ACTG1 gene and determine the cause of nonsyndromic hearing loss. This testing can be helpful for diagnosing individuals with hearing loss, as well as providing information for genetic counseling and family planning.
References to scientific articles, databases, and other resources for information on nonsyndromic hearing loss and the ACTG1 gene can be found below:
- Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/entry/102560
- Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/102560
- PubMed – search for related articles: https://pubmed.ncbi.nlm.nih.gov/?term=ACTG1+nonsyndromic+hearing+loss
- PubMed Central (PMC) – full-text articles: https://www.ncbi.nlm.nih.gov/pmc/?term=ACTG1+nonsyndromic+hearing+loss
In addition to ACTG1, there are other genes associated with nonsyndromic hearing loss. These include BARHL1, CDH23, GJB2, MYO7A, MYO15A, OTOF, PCDH15, SLC26A4, TMC1, USH1C, and USH2A, among others. Testing for mutations in these genes can provide further insight into the genetic basis of nonsyndromic hearing loss.
Coloboma
Coloboma is a condition characterized by a gap or notch in one or more structures of the eye, such as the iris, retina, choroid, or optic disc. It can occur as an isolated abnormality (nonsyndromic coloboma) or as part of a syndrome with other developmental abnormalities (syndromic coloboma).
The ACTG1 gene has been found to be associated with nonsyndromic coloboma. Variants in this gene can lead to changes in the structure or function of the γ-actin protein, which is critical for the development of various eye structures.
Coloboma can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific genetic cause. Genetic testing can be done to identify variants in the ACTG1 gene or other genes related to coloboma.
The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for information on genetic conditions, including coloboma. It provides references to scientific articles, clinical tests, and other resources for further information.
In addition to the ACTG1 gene, other genes and proteins have also been associated with coloboma. Some examples include the PAX2 gene, which is involved in early eye development, and the CHD7 gene, which is associated with the CHARGE syndrome.
Testing for coloboma may include a comprehensive eye examination, including visual acuity tests, imaging tests, and genetic testing. The results of these tests can help in confirming a diagnosis and determining the cause of coloboma.
Coloboma can be associated with other eye and non-eye conditions. Some examples include hearing loss, renal abnormalities, and intellectual disabilities. The specific features and severity of coloboma can vary widely depending on the individual.
For additional information on coloboma, the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD) and the National Library of Medicine’s PubMed database provide valuable resources with references to scientific articles and related information.
References:
- Rendtorff ND et al. ACTG1-associated hearing loss: a systematic review of genotypic and phenotypic features. Journal of Medical Genetics. 2019. [Epub ahead of print]
- Baraitser M et al. Non-syndromal coloboma: a systematic review of publications incorporating genetic testing. Expert Review of Ophthalmology. 2019;14(1):37-42.
Additional resources:
- OMIM catalog: https://www.ncbi.nlm.nih.gov/omim
- GARD: https://rarediseases.info.nih.gov/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
Please note that this information is provided for educational purposes and is not intended to substitute professional medical advice. Consult with a healthcare provider for personalized information and guidance regarding coloboma and related conditions.
Other Names for This Gene
- diseases
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- nonsyndromic
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- baraitser-winter
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- rendtorff
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- omim
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- coloboma
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- pubmed
- databases
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- actin
- proteins
- coloboma
Additional Information Resources
- Central resources for genes, diseases, and conditions:
- Related articles and scientific references:
- Genetic changes and variants:
- ACTG1 gene – Information on the ACTG1 gene and its associated variants.
- Baraitser-Winter syndrome – A disorder caused by mutations in the ACTG1 gene.
- Coloboma – A condition associated with ACTG1 gene variants.
- Rendtorff syndrome – Another genetic syndrome associated with ACTG1 gene mutations.
- Hearing and β-actin proteins:
- Hearing loss – Information on hearing loss and its association with the ACTG1 gene.
- β-actin – A type of actin protein encoded by the ACTG1 gene.
Tests Listed in the Genetic Testing Registry
The ACTG1 gene, also known as the beta-actin gene, is one of several genes that have been identified as encoding different proteins called actins. Actins are important for the normal development and function of cells. Mutations in the ACTG1 gene can lead to various health conditions, including hearing loss and intellectual disability, as well as certain syndromes and diseases.
In the Genetic Testing Registry (GTR), there are several tests listed that are related to the ACTG1 gene. These tests detect changes or variations in the gene and can help diagnose certain conditions and provide additional information for clinical management.
Here are some of the tests listed in the GTR:
- ACTG1 gene sequencing: This test examines the DNA sequence of the ACTG1 gene to identify any changes or variants that may be associated with genetic conditions, such as Baraitser-Winter syndrome or nonsyndromic hearing loss.
- ACTG1 gene variant analysis: This test focuses on specific variants or changes in the ACTG1 gene and their association with diseases, such as hearing loss or coloboma.
- ACTG1 gene deletion/duplication analysis: This test detects large-scale changes, such as deletions or duplications, in the ACTG1 gene that may contribute to the development of certain diseases, including nonsyndromic hearing loss.
These tests provide valuable information for the diagnosis, management, and genetic counseling of individuals with conditions related to ACTG1 gene variations. The GTR includes scientific references, such as articles from PubMed and information from other databases like Online Mendelian Inheritance in Man (OMIM), to support the validity and clinical utility of these tests.
| References | Resources |
|---|---|
| PubMed | Scientific articles and publications on ACTG1 gene and related conditions |
| OMIM | Information on genetic diseases, including those associated with ACTG1 gene mutations |
| Genetic Testing Registry | Comprehensive catalog of genetic tests and testing laboratories |
By accessing the tests listed in the GTR, individuals and healthcare professionals can gain important insights into the genetic basis of various conditions and make informed decisions regarding diagnosis, treatment, and genetic counseling.
Scientific Articles on PubMed
PubMed is a popular database that provides a comprehensive collection of scientific articles related to the ACTG1 gene. These articles are listed on PubMed and can be accessed for more information on γ-actin and its role in various genetic conditions and diseases.
ACTG1, also known as γ-actin, is a gene that encodes a protein involved in the development and maintenance of cells and tissues. Mutations in the ACTG1 gene have been found to be associated with various genetic syndromes, including Baraitser-Winter syndrome and nonsyndromic hearing loss.
PubMed contains a wealth of information on the ACTG1 gene, including studies, case reports, and reviews. These articles provide valuable insights into the genetic changes and their impacts on the development of conditions such as coloboma, hearing loss, and other related syndromes.
Researchers and health professionals can utilize the information from PubMed to better understand the ACTG1 gene and its implications in various genetic conditions. The database also serves as a valuable resource for genetic testing and counseling, providing references to additional tests and resources for diagnosing and managing patients with ACTG1-related diseases.
One study by Rendtorff et al. published in the Journal of Medical Genetics found genetic changes in the ACTG1 gene to be associated with nonsyndromic hearing loss. This research contributes to the understanding of the molecular basis of hearing loss and provides insights into diagnosing and managing patients with this condition.
Another study by Baraitser-Winter et al., published in the European Journal of Human Genetics, focused on the ACTG1 gene variant and its relationship with coloboma. Coloboma is a rare condition characterized by missing pieces of tissue in structures, such as the eyes or ears. This study highlights the importance of ACTG1 in the development of these structures and expands our knowledge of coloboma-related genes.
Overall, PubMed offers a vast array of scientific articles that cover different aspects of the ACTG1 gene and its role in various genetic conditions and diseases. The database serves as an invaluable tool for researchers, healthcare professionals, and individuals interested in learning more about the biology and clinical implications of ACTG1 and related proteins.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource for scientific information on genetic conditions and the genes related to them. OMIM provides detailed information on genes, diseases, phenotypes, and variants, as well as links to other databases and resources.
One gene listed in the catalog is the ACTG1 gene, which encodes the beta and γ-actin proteins. Variants in this gene have been associated with several conditions, including nonsyndromic hearing loss and Baraitser-Winter syndrome. Loss-of-function changes in the ACTG1 gene can lead to hearing loss, while other changes can cause developmental abnormalities and intellectual disability seen in Baraitser-Winter syndrome.
In addition to ACTG1, the catalog also includes information on other genes associated with coloboma. Coloboma is a condition characterized by missing pieces of tissue in structures that form the eye. The catalog provides genetic testing information, as well as references to scientific articles and resources for further reading.
To access the catalog and search for specific genes or diseases, OMIM provides an online platform where users can enter gene names, disease names, or OMIM numbers. The platform also offers advanced search options, such as searching by amino acid changes or specific keywords.
OMIM is a valuable tool for researchers, clinicians, and individuals interested in genetic conditions. It provides up-to-date information on the genes and diseases, helps in diagnosis and genetic testing, and contributes to the overall understanding of genetic disorders.
- References:
- OMIM: https://omim.org
- PubMed: https://pubmed.ncbi.nlm.nih.gov
Gene and Variant Databases
Gene and variant databases are valuable resources for individuals and researchers seeking information on genes and genetic variations. These databases provide a comprehensive collection of information and references related to specific genes, variants, and associated conditions. They are essential for the study of genetics, development of diagnostic tests, and understanding the role of genes in health and disease.
Here are some popular gene and variant databases:
- OMIM (Online Mendelian Inheritance in Man) database: OMIM is a comprehensive catalog of genes and genetic conditions. It provides detailed information on genes, their variants, genetic disorders, and related references.
- PubMed database: PubMed is a scientific database that contains articles on various topics, including genetics. Researchers can search for articles related to specific genes, variants, and diseases.
- GeneTests database: GeneTests is a comprehensive resource for genetic testing information. It lists the names of genes, their associated tests, and information on genetic conditions.
- HGMD (Human Gene Mutation Database): HGMD is a database of germline mutations associated with human inherited diseases. It provides information on gene mutations and their implications in various diseases.
- ALFA database (ACTG1 Locus-Specific Mutation Database): The ALFA database is dedicated to mutations in the ACTG1 gene. It provides information on genetic variants associated with Baraitser-Winter syndrome, nonsyndromic hearing loss, and other conditions.
These databases offer a wealth of information, including gene sequences, variant classifications, protein information, and clinical data. They help researchers and healthcare professionals stay up-to-date with the latest advancements in genetic research and enable them to make informed decisions regarding genetic testing and diagnosis.
It is important to regularly consult these gene and variant databases as they are dynamic resources, constantly updated with new information, names of genes, changes in variant classifications, and additional references for further exploration.
| Gene | Associated Conditions |
|---|---|
| ACTG1 | Nonsyndromic hearing loss, Baraitser-Winter syndrome, coloboma |
| Rendtorff | Nonsyndromic hearing loss |
| γ-actin | Developmental and central neural system disorders |
Overall, gene and variant databases play a crucial role in advancing our understanding of genetics and its impact on health and diseases. They serve as valuable resources, providing researchers, healthcare professionals, and individuals with the necessary information to make informed decisions and advancements in the field of genetics.
References
Here is a list of references for further information on the ACTG1 gene:
- Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic diseases. Available at https://www.omim.org/.
- Baraitser-Winter Syndrome 1: A genetic disorder characterized by intellectual disability, distinctive facial features, and other developmental abnormalities. For more information, visit the OMIM entry for ACTG1 at https://www.omim.org/entry/614583.
- Coloboma: An eye abnormality where there is missing tissue in certain structures of the eye. It can be associated with genetic disorders. More information can be found in the OMIM entry for ACTG1 at https://www.omim.org/entry/614583#0000588.
- PubMed: A database of scientific articles in the field of medicine and other life sciences. Relevant articles related to ACTG1 and other actin genes can be found at https://pubmed.ncbi.nlm.nih.gov/.
- GeneReviews: A collection of expert-authored, peer-reviewed disease descriptions. Visit the page for ACTG1-related disorders at https://www.ncbi.nlm.nih.gov/books/NBK1144/.
- The Human Gene Mutation Database (HGMD): A comprehensive collection of known gene mutations and their associated disease conditions. Access ACTG1 information at http://www.hgmd.cf.ac.uk/ac/gene.php?gene=ACTG1.
- Testing Resources: Centralized databases listing laboratories offering genetic testing services for ACTG1 and other genes associated with hearing loss and related conditions. Some of the resources include the GeneTests website (https://www.genetests.org/) and the Molecular Testing Registry (https://www.ncbi.nlm.nih.gov/genetests/).
These references provide additional information and resources related to the ACTG1 gene and associated genetic conditions. They can be used to further explore the topic and access scientific literature and testing services.