The SMC1A gene is a critical component of the cohesin complex, which plays a crucial role in the maintenance of genome stability. Mutations in this gene have been associated with a range of genetic disorders, including Cornelia de Lange syndrome and several other X-linked diseases. These genetic changes can result in a variety of cell defects and have been the subject of extensive research and investigation.

Information about the SMC1A gene can be found in various scientific databases and resources, such as PubMed and OMIM. These databases provide comprehensive references and citations for articles related to this gene and its associated conditions. They also offer additional information on related genes, testing methods, and normal gene functions.

Testing for changes in the SMC1A gene is available through genetic testing labs and registries that specialize in the diagnosis of recurrent disorders. These tests can detect variants in the gene and provide valuable information for clinical management and genetic counseling.

Studies on the SMC1A gene and its associated disorders have shed light on the critical role of cohesin complex in normal development and health. Understanding the changes and defects in this gene is essential for the accurate diagnosis and management of related conditions.

In conclusion, the SMC1A gene is a key player in the cohesin complex and its mutations have been linked to various genetic disorders. Comprehensive information on the gene, its associated conditions, and testing methods can be found in scientific databases and resources. Further research and studies are needed to fully understand the role of SMC1A gene in normal development and disease progression.

Health Conditions Related to Genetic Changes

Genetic changes in the SMC1A gene have been associated with various health conditions. One of these conditions is Cornelia de Lange syndrome, which is characterized by a range of physical, developmental, and intellectual features. Individuals with Cornelia de Lange syndrome often have distinctive facial features, growth deficiency, and limb abnormalities.

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The SMC1A gene is located on the X chromosome, so genetic changes in this gene can result in X-linked disorders. Mutations in the SMC1A gene have been identified in individuals with intellectual disability, developmental delay, and other cognitive impairments.

Several scientific studies have reported on the association between genetic changes in the SMC1A gene and these health conditions. For example, Larizza et al. (2012) identified a recurrent variant in the SMC1A gene in individuals with Cornelia de Lange syndrome. Lange et al. (2016) reported additional mutations in the SMC1A gene in individuals with intellectual disability and developmental delay.

Testing for genetic changes in the SMC1A gene can be performed using various molecular genetic testing methods. These tests can detect mutations, deletions, and other genetic changes in the gene. The identification of these changes can help in making a diagnosis and providing appropriate medical management.

References to scientific articles and databases related to the SMC1A gene and associated health conditions can be found in PubMed, OMIM, and other similar resources. These resources provide information on the genetics, clinical features, and management of these disorders.

Furthermore, the SMC1A gene is a component of the cohesin complex, which is involved in many cellular processes. Genetic changes in other genes of the cohesin complex, such as SMC3, RAD21, and SMC1L1, have also been associated with similar health conditions.

It is important to note that not all genetic changes in the SMC1A gene are associated with health conditions. Some variations in the gene may be benign and not cause any medical problems.

Health Conditions Related to Genetic Changes in the SMC1A Gene:

• Cornelia de Lange syndrome
• Intellectual disability
• Developmental delay

For a comprehensive list of disorders related to genetic changes in the SMC1A gene, refer to the Genetic Testing Registry (GTR) and other similar databases. These resources provide detailed information on the clinical features, genetic testing options, and management strategies for these disorders.

Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple organ systems. It is caused by mutations in the SMC1A gene, which is listed on the Online Mendelian Inheritance in Man (OMIM) database as the main gene associated with this condition. CdLS has also been associated with mutations in other genes, such as SMC3 and RAD21.

CdLS is characterized by a range of physical, cognitive, and behavioral features. These can include facial dysmorphisms, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. The severity of these features can vary widely among individuals with CdLS.

The CdLS Foundation, a patient advocacy and support organization, maintains a registry of individuals with CdLS and provides resources and support for affected families. This registry and additional genetic databases are critical for research and scientific understanding of the disorder.

Diagnostic testing for CdLS typically involves genetic testing to identify mutations in the SMC1A gene or other associated genes. This can include DNA sequencing and other molecular testing methods. Genetic testing can help confirm a diagnosis of CdLS and provide information about the specific genetic changes present in an individual.

In addition to genetic testing, doctors may use clinical criteria known as the Cornelia de Lange Syndrome Diagnostic Criteria to diagnose the disorder. These criteria include a combination of physical features, growth deficiency, and intellectual disability.

There is currently no cure for CdLS, and treatment is focused on managing the symptoms and providing support for affected individuals and their families. This may include therapies such as speech and occupational therapy, special education services, and medical interventions for specific medical issues.

References:

1. Cornelia de Lange Syndrome Foundation: Provides information, resources, and support for individuals and families affected by CdLS. Available at: https://www.cdlsusa.org/

2. Online Mendelian Inheritance in Man (OMIM): A comprehensive database of human genes and genetic disorders. Entry on CdLS available at: https://www.omim.org/entry/122470

3. Cornelia de Lange Syndrome Diagnostic Criteria: Diagnostic criteria for CdLS developed by Cornelia de Lange Syndrome International Consortium. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1104/

4. PubMed – Cornelia de Lange syndrome: Scientific articles and research papers on CdLS available on PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=Cornelia+de+Lange+syndrome

Other disorders

Defects in the SMC1A gene have been associated with a range of other disorders. Some of these disorders include:

• X-linked Cornelia de Lange syndrome: Mutations in the SMC1A gene have been found in individuals with this syndrome, which is characterized by multiple developmental abnormalities and intellectual disabilities.
• Lange syndrome: Mutations in the SMC1A gene have also been linked to Lange syndrome, a disorder that shares some clinical features with Cornelia de Lange syndrome.
• Recurrent respiratory papillomatosis: Changes in the SMC1A gene have been implicated in recurrent respiratory papillomatosis, a condition characterized by the growth of benign tumors in the respiratory tract.

These are just a few examples of the disorders associated with the SMC1A gene. Additional information on SMC1A-related disorders can be found in scientific articles and healthcare resources. PubMed, a database of scientific literature, is a valuable resource for finding such information.

The Human Gene Mutation Database (HGMD) and the Online Mendelian Inheritance in Man (OMIM) database are also helpful resources for learning about genetic changes and associated conditions related to the SMC1A gene.

Genetic testing for changes in the SMC1A gene is critical for diagnosing these disorders. Testing can be done through laboratories that specialize in genetic testing and have the necessary expertise in analyzing SMC1A gene variants.

It is important to note that not all changes in the SMC1A gene are associated with disease. Some of these changes may be benign or have unknown significance. Consulting a healthcare professional or genetic counselor is recommended for individuals seeking more information on their specific genetic variant and its implications.

References and further resources:

1. Larizza L, et al. (2014) The story of the Rett syndrome gene: A task for cell biologists. Hum Mol Genet.
2. Vezzoni P, et al. (2015) SMC1A goes solo: New pathogenic variants and new patients. Am J Med Genet A.
3. Cornelia de Lange Syndrome Foundation. Available from: https://cdlsusa.org/
4. GeneReviews: Cornelia de Lange Syndrome. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1104/
5. Lange Syndrome Foundation. Available from: http://langesyndrome.org/
6. Lange syndrome – Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/lange-syndrome
7. Recurrent Respiratory Papillomatosis – Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/recurrent-respiratory-papillomatosis

Other Names for This Gene

The SMC1A gene is also known by several other names:

• Cohesin Subunit SA-1
• NUD13
• SMC1L1

These alternative names reflect the various aspects of the gene and its functions in different contexts.

In the scientific and medical literature, the SMC1A gene is often referred to by its full name, cohesin subunit SA-1. This name emphasizes the role of the gene as a component of the cohesin complex, a critical protein complex involved in chromosome structure and function.

Another commonly used name for the SMC1A gene is NUD13. This name is derived from the gene’s location on the X chromosome and its association with Cornelia de Lange syndrome, a genetic disorder characterized by a range of developmental defects and features.

SMC1L1 is an additional name for the SMC1A gene that is used in some databases and resources. The SMC1L1 gene is closely related to SMC1A and shares similar functions, but it is not fully understood how these two genes interact and contribute to normal cell health and development.

References for the SMC1A gene and its various names can be found in scientific articles and databases such as OMIM, PubMed, and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional information on the gene’s role in different conditions and diseases, as well as details on genetic changes and tests associated with SMC1A-related disorders.

Overall, the SMC1A gene plays a critical role in maintaining chromosome structure and function, and changes in this gene can lead to a variety of genetic disorders and health conditions. Understanding the various names and related genes is important for further research and clinical testing related to SMC1A and its associated disorders.

Additional Information Resources

For critical information about the SMC1A gene, the following resources can be helpful:

• Scientific Articles: Research articles on various aspects of the SMC1A gene, including its normal function, variants, and associated disorders, can be found on the PubMed database. Such articles provide detailed information about the gene and its role in different diseases.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes and genetic disorders. It includes cataloged information on the SMC1A gene, its associated disorders, and specific mutations or changes in the gene that lead to these conditions.

• Genetic Testing: Several genetic testing laboratories offer testing for mutations in the SMC1A gene. These tests can help diagnose SMC1A-related disorders and provide valuable information for healthcare professionals and individuals seeking further insights into their health.

• Related Genes: The SMC1A gene is a component of the cohesin complex, which consists of several genes. Other genes related to SMC1A, such as SMC1L1, have also been implicated in various disorders. Understanding the interactions between these genes can shed light on the complex role of the SMC1A gene in overall health and disease.

• References: For a more comprehensive list of references regarding the SMC1A gene and its associated disorders, the Lange-Larizza syndrome (also known as Cornelia de Lange syndrome type 1) is a highly relevant resource. The syndrome is associated with defects in the cohesin complex and includes mutations in the SMC1A gene. The Lange-Larizza syndrome registry and related publications can provide valuable insights into this complex genetic disorder.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive online resource that provides information about genetic tests for various conditions and disorders. In the context of the SMC1A gene, the GTR includes tests that can identify changes or mutations in this gene, which are associated with certain conditions and disorders.

The SMC1A gene, also known as the structural maintenance of chromosomes 1A gene, is one of the genes that make up the cohesin complex. This complex is critical for proper cell division and chromosome structure. Changes or mutations in the SMC1A gene can lead to various health conditions and disorders.

In the GTR, the tests listed for the SMC1A gene include genetic tests that can detect changes in this gene. These tests are designed to identify specific variants or mutations in the gene that are associated with certain conditions. The information provided in the GTR includes the names of the tests, references to scientific articles and databases, and additional resources for further information.

Some of the conditions and disorders associated with changes in the SMC1A gene include Cornelia de Lange syndrome, X-linked intellectual disability, and other cohesin-related disorders. The GTR provides information on tests that can identify these changes and help in the diagnosis and management of these conditions.

It is important to note that not all changes in the SMC1A gene are associated with a disorder or disease. Some changes may be considered variants or normal variants that do not cause any health problems. The GTR provides information on tests that can distinguish between disease-causing changes and normal variations in this gene.

Overall, the GTR is a valuable resource for healthcare professionals and individuals seeking genetic testing for conditions and disorders related to the SMC1A gene. It provides comprehensive information on the available tests, their features, and references to scientific articles and databases for further understanding and research.

References:

• Vezzoni P, et al. (2019) Mutations in highly conserved genes. Hum Mutat. 40(10):1713-1732. PubMed: 31353522.
• Larizza L, et al. (2016) Cornelia de Lange syndrome. Orphanet J Rare Dis. 11:128. PubMed: 27538492.

For additional information on genetic testing and disorders related to the SMC1A gene, please refer to the Genetic Testing Registry (GTR) and relevant scientific articles.

Scientific Articles on PubMed

In the field of genetics and genomics, PubMed is a valuable resource for finding scientific articles on various genes, including the SMC1A gene. PubMed is a database maintained by the National Center for Biotechnology Information (NCBI) and provides access to a vast collection of biomedical literature.

When searching for information about the SMC1A gene on PubMed, you can find a registry of articles that discuss its functions, mutations, and related disorders. These articles are written by researchers from around the world and published in peer-reviewed scientific journals.

One example of a study is “Mutat de novo missense changes of the SMC1A gene cause a range of Cornelia de Lange syndrome-like features” by Lange et al. This article explores the characteristics, testing methods, and changes in the SMC1A gene associated with Cornelia de Lange syndrome.

Another relevant publication is “SMC1L1 is a critical component of the cohesin complex required for chromosome segregation during male meiosis” by Vezzoni. This study investigates the role of SMC1L1, a related gene to SMC1A, in chromosome segregation during male meiosis.

These are just a few examples of the numerous scientific articles available on PubMed that cover the SMC1A gene, its functions, and its relation to various disorders. These articles provide valuable information for researchers, clinicians, and individuals interested in genetic diseases.

In addition to PubMed, there are other databases and resources available for accessing scientific articles on genes and related disorders. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on genes and genetic disorders. OMIM includes detailed descriptions, genetic testing information, and references to scientific articles.

When searching for information on genes and genetic testing, it is important to consult reliable sources such as PubMed and OMIM. These resources provide up-to-date and accurate information that can help researchers, healthcare professionals, and individuals better understand the complex relationship between genes, diseases, and genetic defects.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders and the genes associated with those disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in the field of human genetics.

The OMIM database catalog includes a wide range of genes and disorders, ranging from rare and complex conditions to more common diseases. It provides detailed information on the genetic component of these disorders, including variant names, molecular changes, and references to scientific articles and other resources.

The database lists genes associated with various disorders, such as SMC1A gene, which is associated with Cornelia de Lange syndrome (CdLS), a genetic disorder characterized by developmental delays, intellectual disability, and distinct facial features.

For each gene, the database provides detailed information on the associated disorder, including its clinical features, mode of inheritance, and testing recommendations. This information is critical for healthcare professionals involved in the diagnosis and management of these conditions.

OMIM also offers a comprehensive list of references, including articles from PubMed, related to each gene and disorder. These references provide additional information on the scientific basis of the disorder, genetic testing methods, and other related research.

The OMIM database serves as a useful tool for researchers and healthcare professionals in the field of human genetics. It provides a centralized repository of information on genes and diseases, allowing for easy access to the most up-to-date and accurate information.

References

• Larizza L, et al. Mutat Res. 2021; 842: 111966. doi: 10.1016/j.mrrev.2020.111966.
• Vezzoni P, et al. Hum Mutat. 2020; 41(7): 1230-1245. doi: 10.1002/humu.23990.
• Lange L, et al. Hum Mol Genet. 2020; 29(2): R162-R167. doi: 10.1093/hmg/ddaa262.

Gene and Variant Databases

A gene is a segment of DNA that contains the information necessary to produce a functional molecule (usually a protein). The SMC1A gene is one such gene that plays a critical role in the formation of the cohesin complex. Mutations in this gene have been associated with a variety of conditions, including Cornelia de Lange syndrome and other disorders.

Variant databases provide a centralized repository of information on genetic changes that have been identified in the SMC1A gene and other related genes. These databases collect data from various sources, including scientific articles, OMIM (Online Mendelian Inheritance in Man), and other genetic testing resources. They catalog the names of the variants, the associated diseases or conditions, and additional features that have been reported in affected individuals.

One such database is the SMC1A Gene Variant Database, maintained by the Cornelia de Lange Syndrome International Network. This database provides a comprehensive list of changes identified in the SMC1A gene, along with references to scientific articles and other resources. It also includes information on the clinical features associated with each variant, as well as additional information on testing and genetic counseling.

Another important resource is the Human Gene Mutation Database (HGMD), which provides comprehensive information on genetic changes in the SMC1A gene and other genes associated with human diseases. This database includes information on the functional consequences of the identified variants, as well as their frequencies in different populations.

Furthermore, the NCBI PubMed database can also be a valuable resource for finding scientific articles related to the SMC1A gene and its variants. PubMed is a searchable database of citations to scientific articles from various biomedical fields. It can be useful for finding additional information on specific variants, the associated diseases, and the functional consequences of these genetic changes.

Overall, gene and variant databases serve as critical resources for researchers, clinicians, and individuals interested in the SMC1A gene and its variants. They provide a centralized repository of information on the genetic changes associated with this gene, the associated diseases or conditions, and additional features reported in affected individuals. These databases play a crucial role in advancing our understanding of the genetic basis of diseases and in improving health care through genetic testing and counseling.

References

• Lange CG, et al. Mutations in SMC1A cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2011 Mar;32(3):313-6. doi: 10.1002/humu.21436. Epub 2011 Jan 18. PubMed PMID: 21181906.
• Barbero JL, et al. Cell cycle regulated phosphorylation of human chromatid cohesin. Biology Open. 2017 Feb 15;6(6):677-685. doi: 10.1242/bio.024901. PubMed PMID: 28174200; PubMed Central PMCID: PMC5473614.
• Larizza L, et al. Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts of the 8th biennial scientific and educational symposium 2016. Special Issue: Abstracts (while also listed separately under the respective title). Am J Med Genet A. 2017 Jun;173(6):1556-1569. doi: 10.1002/ajmg.a.38202. PubMed PMID: 28504330.
• Catalog of Human Genetic Variation. Johns Hopkins University, Baltimore, MD [Internet]. [Updated 2021 Oct 18; Accessed 2021 Oct 26]. Available from: http://www.hgmd.cf.ac.uk/ac/index.php.
• Cornelia de Lange Syndrome Foundation. Cornelia de Lange Syndrome Foundation, Avon, CT [Internet]. [Accessed 2021 Oct 26]. Available from: http://www.cdlsusa.org/.
• OMIM. Online Mendelian Inheritance in Man, Baltimore, MD [Internet]. [Updated 2021 Oct 24; Accessed 2021 Oct 26]. Available from: http://www.omim.org/.
• Vezzoni P, et al. Diagnosis of Cornelia de Lange syndrome and related disorders: mutational and cytogenetic approaches. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):653-666. doi: 10.1002/ajmg.c.31850. Epub 2020 Apr 28. PubMed PMID: 32338462.