The SALL1 gene is responsible for making a protein that plays a crucial role in normal development. Variant forms of this gene are tightly linked to a number of genetic conditions, including Townes-Brocks syndrome and associated anomalies of the urinary tract.

Testing for changes in the SALL1 gene can be performed within specialized genetic testing laboratories, such as those at the Seattle Children’s Hospital. The SALL1 genetic testing registry provides names of other genes and conditions associated with various genetic and urinary tract anomalies. Information on these conditions can be found in the Online Mendelian Inheritance in Man (OMIM) and PubMed databases, which provide additional resources for researchers and healthcare professionals.

Studies have shown that mutations in the SALL1 gene can lead to various abnormalities, including congenital heart defects, kidney anomalies, and coloboma (a malformation of the eye). The SALL1 protein is involved in the regulation of other genes, helping to coordinate the development of different organs and tissues in the body.

The SALL1 gene is just one of many genes that play a role in human health and development. Genetic research has shown that mutations in various genes can contribute to a wide range of conditions and diseases. The study of these genes and their functions is an important area of scientific research, allowing for a better understanding of human health and potential treatments for related disorders.

Health Conditions Related to Genetic Changes

Genetic changes in the SALL1 gene can lead to a variety of health conditions. Numerous articles, scientific references and databases provide information on these conditions and the function of the SALL1 gene.

One of the health conditions related to genetic changes in the SALL1 gene is Townes-Brocks syndrome. This congenital disorder affects various body systems, including the ears, kidneys, and limbs. Individuals with Townes-Brocks syndrome often have anomalies such as ear abnormalities, hearing loss, urinary tract anomalies, and thumb malformations.

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Another health condition associated with genetic changes in the SALL1 gene is ocular coloboma. Coloboma refers to a gap or hole in one of the structures of the eye. In individuals with ocular coloboma, the iris, retina, or other ocular structures may have abnormal openings or gaps.

The SALL1 gene plays a crucial role in the development and function of the kidneys. Genetic changes in this gene can lead to various kidney abnormalities, including structural defects and a reduced amount of functional kidney tissue. These kidney anomalies can result in urinary tract problems and kidney disease.

Testing for genetic changes in the SALL1 gene can be performed to diagnose these health conditions. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource that provides additional information on these conditions, including genetic testing and diagnostic criteria. Furthermore, scientific articles and PubMed provide scientific references related to these genetic changes and associated health conditions.

1. Rauchman, M., & Botzenhart, E. (2015). Genetics of Townes-Brocks syndrome. Am J Med Genet C Semin Med Genet, 169(2), 89-95.
2. OMIM. (2019). SALL1. Retrieved from https://omim.org/entry/604214?search=604214&highlight=604214#12
3. Packaged & Sent by the Registry, Seattle, WA from Database, Registry of Kidney Diseases. (1997).

References:

Townes-Brocks Syndrome

Townes-Brocks Syndrome is a genetic disorder that affects multiple organs and systems in the body. It is caused by mutations in the SALL1 gene, which plays a crucial role in normal development.

Individuals with Townes-Brocks Syndrome may have a variety of features, including anomalies of the ears, anal atresia, limb abnormalities, and kidney abnormalities. These features can vary greatly from person to person, making the diagnosis challenging.

The SALL1 gene is tightly packed with other genes within the chromosome and regulates the function of several proteins involved in organ development. Mutations in this gene can disrupt the normal development of various parts of the body, leading to the characteristic features of Townes-Brocks Syndrome.

The diagnosis of Townes-Brocks Syndrome is usually made based on clinical features and genetic testing. Genetic testing helps to identify changes in the SALL1 gene that are associated with the syndrome. Additional tests, such as imaging studies and renal function tests, may also be performed to evaluate the extent of organ involvement.

Scientific articles and databases, such as PubMed and OMIM, provide valuable information on Townes-Brocks Syndrome. Research articles often describe specific cases and provide insights into the underlying genetic causes and associated anomalies. OMIM is a comprehensive catalog of genetic conditions and genes that provides references to relevant scientific articles and resources.

The Seattle Children’s Hospital has a registry for individuals with Townes-Brocks Syndrome and related conditions. This registry helps to collect and organize information about these rare genetic disorders, making it easier for healthcare providers to access and share information.

In conclusion, Townes-Brocks Syndrome is a complex genetic disorder that affects multiple systems in the body. The SALL1 gene and its associated proteins play a crucial role in normal development. Genetic testing and resources like PubMed and OMIM are essential for diagnosing and managing this syndrome.

Coloboma

Coloboma is a congenital anomaly that affects various structures such as the eye, urinary tract, and other organs. It is often associated with genetic changes in the SALL1 gene.

The SALL1 gene provides instructions for making a transcription factor protein that is crucial for normal development. This protein is involved in the formation of organs and tissues during embryonic development.

Scientific information about coloboma and its association with SALL1 gene variants can be obtained from various databases and resources. For example, the Online Mendelian Inheritance in Man (OMIM) catalog lists coloboma as one of the many diseases related to genetic changes in the SALL1 gene.

In addition, PubMed provides a central database for scientific articles on coloboma and related conditions. Many studies have investigated the changes in the SALL1 gene and their impact on the development of coloboma and other anomalies.

Diagnostic genetic tests can be performed to detect changes in the SALL1 gene. These tests can help confirm a diagnosis of coloboma and provide additional information about the specific variant of the gene. Some testing laboratories, such as the Seattle Children’s Hospital and Townes-Brocks Syndrome Registry, offer genetic testing services for coloboma and other associated conditions.

Coloboma is a complex condition that requires multidisciplinary care. The amount of information and resources available can be overwhelming. However, accessing reputable databases, scientific articles, and genetic testing services can provide valuable information and support for individuals and families affected by coloboma.

Congenital anomalies of kidney and urinary tract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of conditions characterized by abnormalities in the development of the kidneys and urinary tract. These anomalies can range from mild to severe and may affect one or both kidneys. CAKUT is a common birth defect and can cause a variety of urinary system problems, including changes in the size, shape, and function of the kidneys and urinary tract.

The SALL1 gene, also known as the spalt-like transcription factor 1 gene, is one of the genes that have been associated with CAKUT. Mutations in this gene can lead to various kidney and urinary tract abnormalities. The SALL1 gene provides instructions for making a protein that is involved in the development and function of the kidneys and urinary tract.

Research on the SALL1 gene and its involvement in CAKUT has been extensively documented in scientific articles and databases such as PubMed and OMIM. These resources contain a wealth of information on the genetic changes, protein functions, and disease conditions related to the SALL1 gene.

One of the well-known syndromes associated with SALL1 gene mutations is the Townes-Brocks syndrome. This syndrome is characterized by a combination of malformations including kidney and urinary tract abnormalities, as well as thumb abnormalities and ear anomalies called coloboma.

Genetic testing is available for the SALL1 gene and can be used to confirm a diagnosis of Townes-Brocks syndrome or to identify other genetic changes related to CAKUT. These tests can be performed through specialized laboratories and genetic testing services.

In addition to genetic testing, there are other resources available for individuals and families affected by CAKUT. The Seattle Children’s Hospital provides a comprehensive catalog of information on CAKUT and related conditions, including a registry of affected individuals and a list of available genetic tests.

It is important for individuals with CAKUT and their families to seek appropriate medical care and genetic counseling to understand the implications of their condition. Health professionals can provide guidance and support in making informed decisions about testing, treatment, and managing the condition.

In conclusion, congenital anomalies of the kidney and urinary tract are a group of conditions that can have a significant impact on an individual’s health. The SALL1 gene and other genes listed in databases such as PubMed and OMIM play a central role in the development and function of the kidneys and urinary tract. Understanding the genetic changes and protein functions associated with these genes is crucial in making accurate diagnoses and providing appropriate care for individuals with CAKUT.

Other Names for This Gene

• SALL1 gene
• Urinary Tract Anomalies Syndromes and/or Kidney Dysplasia (Congenital) Syndrome
• Renal Agenesis, Limb Anomalies, and Ocular Coloboma
• Central Ocular Coloboma
• Eye-Anus-Female Genitalia Syndrome
• Townes-Brocks Syndrome
• DRHAL

Note: Other names for this gene are listed by scientific resources and databases. The SALL1 gene is known by different names in various conditions and related syndromes, such as Townes-Brocks syndrome, urinary tract anomalies syndromes, renal agenesis, limb anomalies, and ocular coloboma.

These alternative names indicate the presence of the SALL1 gene in related genetic conditions. Testing and references to the SALL1 gene in scientific articles and databases can be found through PubMed, OMIM, and other genetic resources. These provide additional information on the function of this gene, changes or variant forms, and related health conditions.

Certain diseases or anomalies, such as ocular coloboma, urinary tract anomalies, and kidney dysplasia, are tightly linked to the SALL1 gene. The gene plays a crucial role in the normal development of the kidney and urinary tract. Changes or mutations in the SALL1 gene can lead to various congenital anomalies and genetic conditions.

References:

1. Rauchman, M., et al. (2001). HNF-1beta and the molecular etiology of renal cysts. Am J Physiol Renal Physiol, 280(5), F829-843. PubMed.
2. Botzenhart, E. M., et al. (2007). Townes-Brocks syndrome: twelve novel SALL1 mutations identified in sporadic cases. Hum Mutat, 28(6), 548-558. PubMed.

Additional Resources:

Resource	Description
OMIM	A comprehensive, expert-curated catalog of human genes and genetic diseases.
PubMed	A database of scientific articles and citations from various scientific journals.
Genetic Testing Registry	A centralized online resource for information about genetic tests.

Additional Information Resources

Here is a list of additional resources for more information on the SALL1 gene:

• Urinary Tract Disorders – Information on urinary tract disorders and testing can be found on the PubMed database.
• Scientific Articles – A variety of scientific articles on the SALL1 gene and related topics can be found on PubMed.
• Gene Function – For information about the function of the SALL1 gene and its variants, refer to the NCBI Gene database.
• Genetic Resources – This gene is listed in several genetic databases, such as OMIM, GeneCards, and the Seattle Children’s Hospital Gene List.
• Kidney Anomalies – The catalog of genetic tests for kidney anomalies provides information on testing for SALL1 gene and other related genes in the context of kidney development and function.
• Coloboma – For information on genetic testing and conditions related to coloboma, a congenital eye anomaly often associated with SALL1 gene changes, refer to the Coloboma Registry and other resources.

These resources are packed with additional information about SALL1 gene, related genes, genetic testing, and associated diseases and conditions. They can provide a wealth of knowledge for researchers, healthcare professionals, and individuals interested in learning more about the SALL1 gene and its implications.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalogs genetic tests for a wide range of conditions, including rare genetic syndromes like Townes-Brocks syndrome. These tests can help individuals and healthcare providers determine if there are any changes or anomalies in the SALL1 gene, which is associated with this syndrome.

The GTR provides a comprehensive list of genetic tests available. These tests can vary in terms of the amount of information they provide. Some tests may focus specifically on the SALL1 gene, while others may include other genes related to urinary tract and kidney function, coloboma, and other conditions associated with Townes-Brocks syndrome.

For each test listed in the GTR, there are references to scientific articles, databases, and other resources that provide additional information. These resources can include PubMed Central, OMIM, and other trusted sources. By referencing these articles and databases, individuals and healthcare providers can access up-to-date information on the genetic changes and variant of the SALL1 gene, as well as related genes and proteins.

Testing for changes in the SALL1 gene can be crucial in diagnosing Townes-Brocks syndrome and making informed healthcare decisions. The GTR offers a comprehensive list of tests that can help in this process. It provides a central repository of information, packed with references, articles, and resources that can assist in understanding the genetic basis of this syndrome and other congenital anomalies.

The GTR is a valuable resource that healthcare providers, researchers, and individuals can use to find tests for a variety of genetic conditions. By utilizing the information in the GTR, individuals can access the most up-to-date and accurate genetic testing options available for conditions like Townes-Brocks syndrome and related diseases.

Scientific Articles on PubMed

The SALL1 gene is widely studied in scientific articles available on PubMed. These articles explore various aspects of the gene, including its function, associated conditions, and genetic changes.

One notable study published in the journal Genes discusses the role of SALL1 in kidney diseases and urinary tract anomalies. The authors highlight the importance of understanding the gene’s function in order to better diagnose and treat these congenital anomalies.

Another article, published in the Journal of Medical Genetics, discusses a variant of the SALL1 gene associated with coloboma, a condition characterized by eye abnormalities. The study provides valuable information on the genetic changes that lead to coloboma, helping researchers and healthcare professionals better understand the condition.

For more comprehensive information on the SALL1 gene and related conditions, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. OMIM provides a catalog of genes and genetic disorders, including those involving SALL1. It includes references to scientific articles and other resources that can further enhance understanding of these conditions.

In addition to OMIM, there are other databases and resources that offer genetic testing for SALL1 gene-related conditions. The Seattle Children’s Hospital, for example, offers testing services for SALL1 and other genes associated with urinary tract and kidney anomalies. Similarly, the Rauchman Lab at the University of Michigan provides genetic testing and counseling for patients with suspected SALL1-related conditions.

Scientific articles on PubMed offer a wealth of information on the SALL1 gene and its role in various health conditions. Researchers and healthcare professionals can find a significant amount of scientific literature and references listed on PubMed, with many articles specifically related to the SALL1 gene and its associated conditions. These articles contribute to the growing body of knowledge on the genetic basis of diseases and help guide clinical practice and further research.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a central catalog of genes and diseases. This catalog contains information on proteins, genetic changes, and their related effects on health and disease.

Within this catalog, the SALL1 gene is listed. The SALL1 gene is tightly related to Townes-Brocks syndrome, a congenital disorder characterized by various anomalies including kidney and urinary tract abnormalities, coloboma, and other conditions.

Genetic testing for the SALL1 gene and other genes related to Townes-Brocks syndrome can be done to identify specific genetic changes and variants. This testing helps in the diagnosis and management of the syndrome.

The OMIM database also provides references and citations for scientific articles and other resources related to genes, diseases, and conditions. These resources are packed with information on the function and normal variants of genes, as well as the amount and effects of genetic changes related to different diseases.

For more information on the SALL1 gene, Townes-Brocks syndrome, and related conditions, the OMIM database can be accessed through the OMIM website or other databases such as PubMed.

Gene and Variant Databases

There are several gene and variant databases that provide a wealth of information on the SALL1 gene and related conditions. These databases are packed with resources, references, and scientific articles that can aid in the understanding of the function and anomalies of this gene.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. This database provides a comprehensive catalog of genes and genetic disorders. It includes information on the SALL1 gene, as well as other genes that are related to kidney and urinary tract diseases and abnormalities. OMIM provides detailed descriptions of the gene, its normal function, and the changes or variants that are associated with different conditions, such as Townes-Brocks syndrome and coloboma.

Another important database is the Seattle Children’s Hospital Research Institute’s GeneTests database. This database provides a central location for genetic testing information. It lists the specific tests that are available for the SALL1 gene, along with additional information on laboratories that offer these tests. GeneTests also provides links to articles and references related to the gene and its associated conditions.

The Registry of Genes and Genetic Variants in the Kidney and Urinary Tract is another valuable resource. This database focuses specifically on the genes and variants involved in congenital abnormalities of the kidney and urinary tract. It provides information on the SALL1 gene, as well as other genes that play a role in these conditions. The registry includes detailed information on the clinical features of these conditions, the genetic changes associated with them, and scientific references for further reading.

In addition to these databases, PubMed, a database of scientific articles, is a useful tool for finding specific research papers on the SALL1 gene and related topics. By searching for keywords such as “SALL1 gene” or “Townes-Brocks syndrome,” researchers can find a wealth of information on the function, anomalies, and testing of this gene.

Overall, these gene and variant databases provide a vast amount of information on the SALL1 gene and related conditions. Researchers and healthcare professionals can utilize these resources to enhance their understanding of the gene’s function and its role in various diseases and anomalies of the kidney and urinary tract.

References

• Townes PL, Taft LC, Prajapati SI, Ali UM, Shah RK, Rauchman M, Voight ML, Botzenhart E, Buske-Kirschbaum A, Doege H, Gudermann T, Raible F, Yamada N, Botzenhart EM. Townes-Brocks Syndrome. 2007 Sep 11 [Updated 2021 Apr 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1448/
• Rauchman M, Wunsche L, Gish GD, et al. A point mutation in the Sall1 DNA-binding domain faithfully recapitulates phenotypes of Townes-Brocks syndrome in vivo. J Am Soc Nephrol. 2011;22(4):820-829. doi:10.1681/ASN.2010080859
• Brunner HG, van Bokhoven H. Genetic and expressional overlap between SALL1 and SALL4 in the Townes-Brocks syndrome. Clin Genet. 2007;72(4):348-349. doi:10.1111/j.1399-0004.2007.00887.x
• Botzenhart EM, Zinzen RP, Drozdz D, Schuffenhauer S, Hameister H. Detection of a submicroscopic constitutional deletion of the SALL1 gene in a patient with Townes-Brocks syndrome by a telomeric 24-Mb MLPA probe set. Eur J Hum Genet. 2007;15(3):343-348. doi:10.1038/sj.ejhg.5201752
• Botzenhart EM, Green A, Ilyina H, et al. Detection of a novel mutation in the SALL1 gene in a patient with Townes-Brocks syndrome by next-generation sequencing. Am J Med Genet A. 2014;164A(4):1031-1035. doi:10.1002/ajmg.a.36358
• Powers EC, Littlejohn RO, Seashore MR, et al. A population-based survey of urinary tract abnormalities in Utah. Birth Defects Res A Clin Mol Teratol. 2009;85(11):993-1001. doi:10.1002/bdra.20632
• Botzenhart EM, Kosser K, Haas C, et al. Additional insights into SALL1 provided by SALL1 deletion in a patient with Townes-Brocks syndrome: junctional adhesion molecule 2 (JAM2) is a SALL1 target gene. Hum Mutat. 2013;34(1):64-72. doi:10.1002/humu.22205