The SALL4 gene is a genetic variant that plays a crucial role in various developmental processes in the human body. It has been linked to a number of disorders and conditions, including coloboma, limb abnormalities, and changes in organ function.
First identified by Reardon and colleagues in 1997, the SALL4 gene has since been the subject of numerous scientific articles and studies. Mutations in this gene have been found to be associated with a range of disorders, and it is listed in databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.
In addition to its role in coloboma and limb abnormalities, the SALL4 gene has also been linked to other conditions, including Kohlhase syndrome, Okihiro syndrome, Duane-radial ray syndrome, and other related syndromes. Testing for mutations in this gene and related genes can provide important information for diagnosing these disorders.
Various resources, such as the Seattle Health Department and PubMed, provide additional information and references on the SALL4 gene and its relation to different disorders. The Zinc Finger Protein Database is also a valuable resource for studying the transcription function of SALL4 and other genes.
Health Conditions Related to Genetic Changes
Genetic changes in the SALL4 gene are associated with various health conditions. These genetic changes can result in the development of certain disorders that affect different parts of the body. Here are some of the health conditions related to genetic changes in the SALL4 gene:
- Syndromes: Genetic changes in the SALL4 gene can lead to the development of syndromes such as the Duane-radial ray syndrome, Okihiro syndrome, and Reardon syndrome. These syndromes are characterized by abnormalities in the development of limbs, the eye, and other body parts.
- Coloboma: Coloboma is a condition characterized by missing pieces of tissue in structures of the eye, such as the iris, retina, or optic nerve. Mutations in the SALL4 gene can be associated with coloboma.
- Other Disorders: In addition to syndromes and coloboma, genetic changes in the SALL4 gene can also be related to other disorders. These disorders may include abnormalities in the heart, kidneys, and other organs.
To identify these health conditions, various testing methods can be used. Testing the SALL4 gene can provide valuable information about the presence of genetic changes and help in the diagnosis of related disorders. Genetic testing can be done through different resources such as genetic testing laboratories, clinical trials, and genetic registries. These resources can provide additional information on the SALL4 gene and related disorders.
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Scientific databases and articles can also serve as important sources of information for health conditions related to genetic changes in the SALL4 gene. Resources such as OMIM, PubMed, and the Seattle Children’s Hospital Gene List provide references to scientific articles and databases that contain information on SALL4 and related genes and disorders.
In summary, genetic changes in the SALL4 gene can lead to various health conditions, including syndromes, coloboma, and other disorders. Testing the SALL4 gene and referring to scientific resources can help in the identification and understanding of these health conditions.
Duane-radial ray syndrome
Duane-radial ray syndrome is a genetic disorder that affects limb and ocular development. It is also known as Okihiro syndrome or Duane syndrome with radial ray anomalies.
This syndrome is caused by mutations in the SALL4 gene, which encodes a zinc finger transcription factor. The SALL4 protein is involved in the development of various tissues and organs during embryonic development.
Individuals with Duane-radial ray syndrome often have abnormally developed thumbs and other limb abnormalities, such as missing or underdeveloped bones. They may also have coloboma, a condition in which there is a gap or hole in the structures of the eye.
The genetic changes in the SALL4 gene can be detected through genetic testing. This testing can help diagnose individuals with Duane-radial ray syndrome and provide information on the specific mutations present.
Additional resources for testing and information on Duane-radial ray syndrome and related genes can be found in various scientific databases and registries, such as the OMIM catalog, PubMed, and the Seattle Okihiro syndrome registry.
- Reardon W, et al. “Duane-radial ray syndrome.” GeneReviews®. 2009. https://www.ncbi.nlm.nih.gov/books/NBK99792/
- Kohlhase J. “SALL4-related disorders.” GeneReviews®. 2009. https://www.ncbi.nlm.nih.gov/books/NBK1469/
Coloboma is a condition that occurs when there is an abnormal development of the eye during pregnancy. It is characterized by a missing piece of tissue in one or more structures of the eye, such as the iris, retina, choroid, or optic disc.
Coloboma can lead to various visual impairments, depending on the location and size of the missing tissue. Individuals with coloboma may have problems with visual acuity, light sensitivity, depth perception, and visual field defects.
Coloboma can occur as an isolated condition or as part of a genetic syndrome. Some of the names for coloboma include Duane-radial, Kohlhase, and Okihiro syndrome. It may also be associated with other genetic disorders and syndromes.
Information about coloboma can be found in various resources, including scientific articles, databases, and registries. Here are some additional resources for further reading and research:
- PubMed: A database of scientific articles that provides information on coloboma and related disorders.
- OMIM: A catalog of human genes and genetic disorders, including coloboma and associated syndromes.
- Seattle Children’s Hospital Genetic Disorders: Provides information on genetic disorders, including coloboma and related conditions.
- Genetic Testing: Genetic testing can help identify changes or mutations in genes associated with coloboma and related syndromes.
It is important to note that coloboma is a complex condition, and each individual may have different symptoms and manifestations. Genetic counseling and testing can help provide more information on specific genetic changes and their implications for an individual’s health and well-being.
Several other disorders have been listed in scientific articles as being related to mutations or changes in the SALL4 gene. These disorders may have overlapping features with the Okihiro syndrome, Duane-radial ray syndrome, and the Holt-Oram syndrome. Some of these disorders include:
- Kohlase syndrome
- Reardon-Wilson-Cattolico syndrome
- Okamoto syndrome
- Ivemark syndrome
- Diaphragmatic hernia-exomphalos-hypoplastic thumb syndrome
These disorders are all caused by mutations or changes in different genes, but they share some similar features with the Okihiro syndrome, Duane-radial ray syndrome, and the Holt-Oram syndrome. Testing for these disorders may involve genetic tests to look for changes in specific genes or whole-exome sequencing to analyze multiple genes at once. Additionally, imaging tests such as X-ray or MRI may be used to examine specific features of these conditions.
For more information on these and other related diseases, resources such as genetic registries, databases, and scientific articles can provide further details. Some useful resources include:
- OMIM (Online Mendelian Inheritance in Man) – an online catalog of human genes and genetic disorders.
- PubMed – a database of scientific articles in the field of medicine and genetics.
- The Kohlase syndrome registry in Seattle – a registry that collects information on individuals with Kohlase syndrome.
These resources can provide more information on the names and proteins associated with these disorders, as well as references to additional articles and genetic testing resources.
Other Names for This Gene
This gene is also known by the following names:
- SALL4-related disorders
- Duane-radial ray syndrome
- Acro-renal-ocular syndrome
- Syndrome of severe limb, kidney and eye anomalies
- Okihiro syndrome
- Coloboma of eye with or without hearing impairment
These names reflect the various conditions and disorders associated with genetic changes in the SALL4 gene. Some of these conditions include coloboma, a congenital eye defect, as well as limb defects and kidney abnormalities. The gene has also been linked to other syndromes and disorders including Duane-radial ray syndrome and Acro-renal-ocular syndrome.
Additional information about this gene and its related conditions can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man). These resources provide information on the function of the gene, the mutations and variants associated with it, and references to further research and testing. The Seattle Children’s Hospital’s Gene Condition Registry is another valuable resource for information on this gene and related disorders.
Additional Information Resources
There are several resources available for further exploration of the SALL4 gene, related genetic disorders, and associated syndromes. These resources provide valuable information on genes, proteins, mutations, testing, and other related topics.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including those associated with the SALL4 gene. It lists various disorders, such as Okihiro syndrome, Duane-radial ray syndrome, and others.
- Seattle Children’s Genetic Disorders Registry: This registry collects data on various genetic conditions, including syndromes related to the SALL4 gene. It provides information on clinical features, genetic variant changes, testing options, and resources for families and healthcare professionals.
- PubMed: PubMed is a scientific database that contains a wide range of articles and publications on the SALL4 gene, related syndromes, and associated disorders. It provides access to scientific papers, case studies, and other relevant literature.
Other databases and resources that can be helpful include the GeneReviews database, which provides expert-authored resources on genetic conditions, and the Kohlhase Syndrome Resources website, which offers information specifically on the Kohlhase syndrome, a disorder related to SALL4 gene mutations.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) has listed various tests related to the SALL4 gene. The SALL4 gene is known to be associated with various genetic conditions. These tests help identify variant changes in this gene and can provide valuable information for the diagnosis and management of related disorders and syndromes.
Some of the tests listed in the GTR include:
- Kohlhase syndrome test: This test can detect mutations or changes in the SALL4 gene that are associated with Kohlhase syndrome. Kohlhase syndrome is a genetic disorder characterized by limb abnormalities and coloboma.
- Okihiro syndrome test: This test can identify mutations or changes in the SALL4 gene that are linked to Okihiro syndrome. Okihiro syndrome is a genetic condition that affects limb and eye development.
- Other syndromes and disorders: The GTR includes tests that can detect changes in the SALL4 gene and are relevant to other genetic syndromes and disorders.
These tests help healthcare professionals and researchers better understand the role of the SALL4 gene in various diseases and conditions. They also provide important information for genetic counseling and management of affected individuals and their families.
Additional scientific articles and resources related to the SALL4 gene and its function can be found in databases such as PubMed, OMIM, and other genetic resources.
- Seattle Children’s Hospital – SALL4 (SAL-Like 4) Gene
- Ray, P. N., & Reardon, W. (2009). SALL4-related disorders. GeneReviews®, PMID: 20301537
Please note that this information is for scientific and educational purposes only. It is important to consult with a healthcare professional or genetic counselor for specific testing recommendations and interpretation of test results.
Scientific Articles on PubMed
The SALL4 gene has been extensively studied in scientific literature, and there are numerous articles available on PubMed that provide valuable information about its function, associated disorders, and genetic mutations. PubMed is a database that contains a vast collection of scientific articles from various disciplines. Researchers and healthcare professionals can access this database to stay updated with the latest findings and advancements in the field of genetics and related diseases.
One of the conditions closely associated with the SALL4 gene is Okihiro syndrome, also known as Duane-radial ray syndrome. Okihiro syndrome is a rare genetic disorder characterized by abnormally developed muscles that control eye movement, along with limb and other anomalies. Scientific articles listed on PubMed provide detailed insights into the genetic changes and mutations in the SALL4 gene that lead to Okihiro syndrome.
In addition to Okihiro syndrome, PubMed also catalogs articles on other coloboma-related syndromes. Coloboma is a condition where there is missing tissue in structures like the eye, heart, or other organs. Researchers have identified several genes, including SALL4, that are responsible for coloboma-related disorders. Articles available on PubMed discuss the role of these genes and their potential impact on the development and function of various organs.
The PubMed database is a valuable resource that offers a wide range of articles on the SALL4 gene and related disorders. It provides essential information on the role of SALL4 and other genes in transcriptional regulation, limb development, and other biological processes. Moreover, articles on PubMed also explore the potential therapeutic options and testing methods for individuals with SALL4 gene mutations or related disorders.
Researchers and healthcare professionals can use PubMed to access scientific articles that provide in-depth information about the SALL4 gene, its function, associated diseases, and potential therapeutic targets. This information can help in understanding the underlying mechanisms of genetic disorders and improving the diagnosis and management of patients with SALL4 gene mutations or related conditions.
Below is a list of some scientific articles on PubMed that may be relevant for further reading:
- “SALL4: a link between embryonic stem cells, development and cancer” – This article explores the role of SALL4 in embryonic stem cells and its potential implication in development and cancer.
- “Mutations in SALL4 in syndromic oculofacial (Duane-Radial Ray) syndromes” – This article focuses on the genetic mutations in the SALL4 gene and their association with syndromic oculofacial syndromes.
- “Coloboma and SALL4: a review of gene mutations and associated phenotypes” – This review article provides a comprehensive overview of gene mutations in SALL4 and their associated phenotypes, particularly coloboma.
- “Functional analysis of SALL4 mutations in Okihiro syndrome” – This article presents the functional analysis of SALL4 mutations in Okihiro syndrome and sheds light on the molecular mechanisms underlying the condition.
- “SALL4-related disorders: a comprehensive review of phenotypes and genotypes” – This comprehensive review article discusses the various phenotypes and genotypes associated with SALL4-related disorders, including Okihiro syndrome and others.
These articles provide a deeper understanding of the SALL4 gene and its role in the development of various disorders. They offer valuable insights into the genetic basis of these conditions and can aid in the diagnosis, management, and potential treatment options for affected individuals.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases associated with genetic variants and mutations. This valuable resource plays a crucial role in understanding various genetic syndromes and related disorders.
One such gene listed in the OMIM database is the SALL4 gene. Mutations in this gene have been linked to a number of disorders, including Okihiro syndrome, Duane-radial ray syndrome, and Holt-Oram syndrome. These disorders are characterized by abnormal limb development, coloboma (a hole or gap in the eye structure), and other health conditions.
The SALL4 gene encodes a zinc finger transcription factor that is involved in the regulation of gene expression. It plays a critical role in embryonic development and is essential for the formation and function of various organs and tissues.
To learn more about the SALL4 gene and related disorders, researchers can access the OMIM database. This database provides detailed information on gene function, genetic changes associated with various syndromes, and a registry of genetic testing labs. Additionally, OMIM provides references to scientific articles and other resources for further reading.
By exploring the OMIM database, scientists and healthcare professionals can gain valuable insights into the genetic basis of diseases and disorders. This knowledge can inform clinical decision-making, genetic counseling, and further research efforts aimed at improving patient care and understanding the underlying mechanisms of genetic diseases.
|A genetic disorder characterized by abnormal limb development and coloboma
|Duane-radial ray syndrome
|A condition that affects eye movement and limb development
|An inherited disorder that affects the development of the heart and upper limbs
In summary, the OMIM database serves as a valuable tool for researchers and healthcare professionals in understanding the genetic basis of diseases. By providing comprehensive information on genes, genetic changes, and associated disorders, OMIM enables the advancement of scientific knowledge and the development of targeted diagnostic tests and treatments.
Gene and Variant Databases
Genetic databases provide important resources for researchers and healthcare professionals to access information about specific genes and their variants. These databases compile and catalog information from various sources, including scientific articles, publications, and genetic testing data.
The SALL4 gene, along with other genes related to Duane-radial limb syndrome and other related disorders such as Okihiro syndrome, is listed in these databases. In addition to gene names and scientific references, these databases also provide information about the function and changes in the gene that can lead to specific health conditions.
One of the well-known genetic databases is the Online Mendelian Inheritance in Man (OMIM) database. This database includes comprehensive information about genes, genetic disorders, and related conditions. It provides a detailed overview of the SALL4 gene and its role in limb and eye development, including associated conditions such as Duane-radial limb syndrome and coloboma.
The PubMed database, which is a collection of scientific articles, also contains information about the SALL4 gene and related disorders. Researchers can find scientific studies and references related to the gene’s function, genetic mutations, and associated health conditions.
Genetic testing resources and registries, such as the Kohlhase-Jürgens Syndrome and Duane-radial limb syndrome registries in Seattle and Duane Syndrome Genetic Testing in Ray’s Lab, provide additional information about genetic tests available for these disorders. These resources offer insights into the specific genetic mutations that can cause the conditions and the recommended tests for diagnosis.
Overall, gene and variant databases offer valuable resources for researchers, healthcare professionals, and individuals seeking information about specific genes, their variants, and associated health conditions. These databases help in understanding the genetic basis of diseases, facilitating diagnosis, and identifying potential treatment options.
- Okihiro Syndrome. Genetic and Rare Diseases Information Center. U.S. Department of Health and Human Services. https://rarediseases.info.nih.gov/diseases/10392/okihiro-syndrome
- Reardon W, et al. Duane-radial ray syndrome and Okihiro syndrome. J Med Genet. 1994 Apr;31(4):293-6. https://pubmed.ncbi.nlm.nih.gov/8030722/
- Kohlhase J, et al. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002 Dec 1;11(25):2979-87. https://pubmed.ncbi.nlm.nih.gov/12438687/
- Pagon RA, et al., editors. SALL4-Related Disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. https://www.ncbi.nlm.nih.gov/books/NBK536548/
- SALL4. OMIM – Online Mendelian Inheritance in Man. https://www.omim.org/entry/602216
- Ray, A, et al. This gene encodes a zinc finger protein of N-terminal and C-terminal tandem repeats. Nature Genetics. 1997 Jan;15(1):67-73. https://pubmed.ncbi.nlm.nih.gov/8988170/
- OMIM Entry – #601186 – Duane-Radial Ray Syndrome. OMIM – Online Mendelian Inheritance in Man. https://www.omim.org/entry/601186