The NIPBL gene is an essential component of the cohesin complex, which plays a crucial role in the regulation of gene expression and the maintenance of genome stability. Mutations in the NIPBL gene have been linked to a rare genetic condition called Cornelia de Lange syndrome (CdLS).

Cornelia de Lange syndrome is characterized by a range of physical and developmental abnormalities, including distinctive facial features, intellectual disability, and limb malformations. The NIPBL gene is responsible for producing a protein that helps ensure the correct copy of genes is passed from parent to child during cell division.

This gene also plays a role in regulating the expression of many other genes, and changes in the NIPBL gene can lead to changes in the regulation of multiple genes. This can result in a variety of health conditions and developmental changes.

Testing for changes in the NIPBL gene is available, including both genetic testing and biochemical tests to detect changes in the cohesin complex. Many resources are available for additional information on the NIPBL gene and related genes, including scientific articles, databases, and genetic testing resources.

Health Conditions Related to Genetic Changes

Genetic changes in the NIPBL gene can result in various health conditions. The NIPBL gene provides instructions for making a protein that is part of a complex called cohesin. This complex is involved in the regulation of gene expression and plays a critical role in the development of many tissues and organs.

One of the health conditions associated with genetic changes in the NIPBL gene is Cornelia de Lange syndrome (CdLS). CdLS is a rare genetic disorder characterized by distinctive facial features, growth abnormalities, intellectual disability, and various other physical and developmental challenges. The NIPBL gene mutations are the most common cause of CdLS, accounting for about 50% of cases.

The problem isn’t a shortage of people wanting to be doctors, but rather, too few opportunities for training. Medical schools have increased class sizes by 30% since 2002, but federal funding for residency training – an essential step in the process of becoming a practicing physician – has not increased since 1997, according to Inside Higher Ed.

The NIPBL gene is also associated with other genetic diseases and syndromes. The NIPBL genetic changes have been found in individuals with Nipped-B-like (NIPBL) syndrome, a condition that shares some similarities to CdLS. Additionally, changes in the NIPBL gene have been implicated in the development of specific leukemia subtypes and other cancers.

There are various resources available for information on health conditions related to genetic changes in the NIPBL gene. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders, including those associated with NIPBL gene changes. The OMIM database provides detailed information, references to scientific articles, and links to other databases and resources.

The NIPBL gene can be tested for changes using genetic testing methods. There are commercial genetic testing companies and laboratories offering tests specifically for the NIPBL gene. These tests can help confirm a diagnosis of CdLS or other related conditions and provide information on the specific genetic changes present.

Furthermore, there is a registry available for individuals with CdLS and related conditions. The CdLS Foundation maintains a registry that collects information on individuals with CdLS and their families. This registry facilitates research and provides opportunities for individuals with CdLS to participate in clinical trials and studies.

References and Resources:

1.	Deardorff, M. A., & Parenti, I. (2019). The genetics of cohesinopathies: from NIPBL to cohesin dysfunctioning. In Lange-Müller Syndrome (Ed.), Lange-Küttner & Müller’s Handbook of Developmental Science, Behavior, and Genetics (pp. 305-335). Oxford, United Kingdom: Wiley-Blackwell.
2.	NIPBL gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/NIPBL
3.	Leiden Open Variation Database (LOVD) – NIPBL gene. (n.d.). Retrieved from https://databases.lovd.nl/shared/genes/NIPBL
4.	CdLS Foundation. (n.d.). Retrieved from https://www.cdlsusa.org

Cornelia de Lange syndrome

The Cornelia de Lange syndrome (CdLS) is a genetic disorder listed in the OMIM catalog. It is caused by changes in the NIPBL gene, which is involved in the regulation of cohesin. Cohesin is a protein complex that plays a crucial role in the structure and function of chromosomes. CdLS affects multiple systems in the body, leading to a range of physical, cognitive, and behavioral features.

The CdLS Foundation provides a comprehensive set of resources for patients, families, and healthcare professionals. The foundation’s website offers information about the syndrome, a registry for patients, and a list of healthcare providers who specialize in caring for individuals with CdLS.

Scientific articles on CdLS and the NIPBL gene can be found on PubMed and other scientific databases. These articles provide valuable information on the genetic changes associated with CdLS, the correlation between genetic variants and clinical features, and the molecular mechanisms underlying the syndrome.

The OMIM catalog also contains a wealth of information on CdLS, including descriptions of clinical features, genetic changes, and references to relevant scientific articles. The catalog provides a comprehensive overview of the syndrome and can be a valuable resource for researchers, healthcare professionals, and individuals and families affected by CdLS.

Genetic testing is available for CdLS, and it can help confirm a diagnosis and provide information on the specific genetic changes causing the syndrome. Testing can be done for the NIPBL gene as well as other genes known to be related to CdLS. The results of genetic testing can provide important information for medical management and genetic counseling.

Other Names for This Gene

This gene is also known by the following names:

• NIPBL gene
• Nipped-B homolog (Drosophila) gene
• SCC2 homolog (S. cerevisiae) gene
• Delangin-like protein gene
• DEL1 gene
• SCC2 gene

These names are used interchangeably and refer to the same gene.

For more information on this gene, you can refer to the following resources:

• OMIM (Online Mendelian Inheritance in Man)
• PubMed (articles and scientific references)
• GeneTests (genetic testing information)
• NIPBL Variant Database (registry of NIPBL genetic variants)

These resources provide additional information on genetic diseases, conditions, and genes related to NIPBL. They also offer testing and diagnostic services for NIPBL gene variants.

If you would like to learn more about the regulation and correlation of NIPBL with other genes, there are many free articles available on PubMed and other scientific databases.

Additional Information Resources

There are several additional resources available for obtaining more genetic information on the NIPBL gene, as well as related genes and diseases.

Databases and Registries:

• SFARI Gene – NIPBL: Provides information on genetic changes in NIPBL and related genes, their correlation to diseases such as Cornelia de Lange syndrome, and their regulation.
• OMIM – NIPBL: A catalog of genetic changes in the NIPBL gene and its correlation to diseases.

Testing and Diagnosis:

• PubMed: Provides scientific articles and publications related to the NIPBL gene, its variants, and associated diseases.
• Langer Lab Genetic Testing: Offers genetic tests for NIPBL gene mutations and other related genes.

Additional Resources:

• PubMed Health – Nipped-B-like Protein: Provides a comprehensive overview of the NIPBL gene, its role in cohesin regulation, and its association with Cornelia de Lange syndrome.
• Cohesin Alliance – Genes: Lists other genes that are part of the cohesin complex and may be related to genetic conditions similar to Cornelia de Lange syndrome.

These resources offer a wealth of information on the NIPBL gene, related genes, and associated diseases. They can be useful for research purposes, genetic testing, and obtaining additional information on specific genetic changes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a freely available online database that provides information about genetic tests that are available for certain diseases and conditions. It is a comprehensive catalog of genetic tests and provides valuable resources for healthcare professionals and individuals seeking information about genetic testing.

The GTR lists various tests related to the NIPBL gene, which is associated with Cornelia de Lange Syndrome (CdLS) and Nipped-B-like (NIPBL) Syndrome. These tests focus on identifying changes or variants in the NIPBL gene and other related genes. The GTR provides information about the scientific names, OMIM (Online Mendelian Inheritance in Man) numbers, and other relevant details of these tests.

There are many tests listed in the GTR for the NIPBL gene and its associated diseases. These tests include genetic sequencing, copy number variant testing, and other methods that can detect changes in the NIPBL gene. The GTR also provides information about the correlation between changes in the NIPBL gene and the development of CdLS and NIPBL Syndrome.

In addition to the NIPBL gene, the GTR also lists tests for other genes that are associated with CdLS and NIPBL Syndrome. These genes include the SMC1A, SMC3, RAD21, HDAC8, and RAD21L1 genes, among others. The GTR provides information about the tests available for these genes, as well as their relevance to the development of CdLS and NIPBL Syndrome.

The GTR is a valuable resource for healthcare professionals and individuals interested in genetic testing for CdLS and NIPBL Syndrome. It provides access to a wide range of tests, resources, and references that can help in the diagnosis and regulation of these diseases. The GTR also offers links to related articles, databases, and scientific publications such as PubMed and OMIM.

Overall, the Genetic Testing Registry is a reliable and up-to-date source of information regarding genetic tests for the NIPBL gene and other genes associated with CdLS and NIPBL Syndrome. It provides free access to comprehensive and accurate information, which can contribute to improved patient care, genetic research, and the understanding of these conditions.

Scientific Articles on PubMed

PubMed is a registry of scientific articles on various topics, including genetic conditions and related genes. It provides a vast collection of references and information for genetic testing, health resources, and research.

One of the genes listed in PubMed is the NIPBL gene, which is associated with Cornelia de Lange syndrome (CdLS) and NIPBL-related disorders. Many scientific articles and resources are available on PubMed regarding these diseases and the genetic changes in the NIPBL gene.

Other related genes, such as cohesin complex genes and genes involved in CdLS, are also cataloged in PubMed. These genes and their genetic changes are extensively studied and documented in scientific articles.

PubMed provides free access to a wealth of scientific information, including articles on the regulation and function of these genes. It’s an invaluable resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions and testing.

Furthermore, PubMed offers additional databases like OMIM, which contain comprehensive information on genetic diseases and their associated genes. These databases allow users to search for specific genes, variants, and related conditions.

When searching for scientific articles on PubMed, it’s important to note that the information may be subject to changes and updates. The version of the article available on PubMed might not reflect the most recent research findings.

In summary, PubMed is a valuable resource for accessing scientific articles on genes such as the NIPBL gene and related conditions like Cornelia de Lange syndrome. It provides a wealth of information and references that are critical for genetic testing, research, and understanding various genetic diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases. The OMIM database, also known as Online Mendelian Inheritance in Man, is a scientific database that collects and organizes information on genetic conditions and related genes.

One of the genes listed in the catalog is the NIPBL gene, which is associated with Cornelia de Lange syndrome. Cornelia de Lange syndrome, also known as CdLS, is a genetic disorder characterized by various physical and cognitive abnormalities.

The catalog provides detailed information on the NIPBL gene, including its role in the regulation of cohesin, a protein complex involved in the proper organization of chromosomes. Changes in the NIPBL gene can lead to changes in cohesin function, which can result in the development of Cornelia de Lange syndrome.

In addition to the NIPBL gene, the catalog includes information on many other genes related to various genetic conditions. It also provides resources for further research, such as articles and references from PubMed, a free database of scientific articles.

To access the catalog and explore the information on genes and diseases, users can visit the OMIM website. They can search for specific genes or diseases using the provided search function.

The catalog is regularly updated with new information and resources. Users can also contribute to the catalog by submitting any relevant changes or additional information they may have.

Key Features of the Catalog of Genes and Diseases from OMIM:

Genes	Listings of various genes associated with genetic conditions.
Diseases	Comprehensive information on various genetic diseases and syndromes.
Resources	References, articles, and other resources for further research.
Testing	Information on genetic testing and diagnostic tests for specific conditions.
Registry	A registry of genetic conditions and related information.

References

• OMIM – Online Mendelian Inheritance in Man: https://www.omim.org
• Descipio C, et al. 2009. Cornelia de Lange syndrome: further delineation of phenotype, cohesin biology and educational focus, 110(1):97-108.

Gene and Variant Databases

There are several databases available that provide information on genes and variants related to NIPBL and other genes associated with genetic diseases. These databases are important resources for scientists, healthcare professionals, and individuals interested in learning more about the genetic basis of various conditions.

• OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides information on the NIPBL gene, as well as other genes associated with Cornelia de Lange syndrome and related conditions. OMIM includes references to scientific articles, genetic testing information, and gene-disease correlations.
• GeneTests is a freely available online resource that provides information on genetic tests for various diseases. It includes a registry of laboratories offering testing for the NIPBL gene and other genes associated with Cornelia de Lange syndrome. GeneTests also provides resources and references for healthcare professionals and individuals seeking information on genetic testing.
• PubMed is a database of scientific articles from biomedical literature. It includes articles on genes, genetic changes, regulation, and other topics related to NIPBL and Cornelia de Lange syndrome. PubMed can be searched using gene names, variant names, and disease names to find relevant articles and information.
• dbVar is a database of genomic structural variants. It includes information on copy number changes, sequence changes, and other genetic changes associated with NIPBL and other genes. dbVar provides access to data from various studies and sources, allowing researchers to explore the genetic variation in different populations and diseases.
• DECIPHER (Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources) is a database that catalogs genomic variants associated with human genetic diseases. It includes information on genomic changes, clinical features, and phenotypic data. DECIPHER allows researchers and clinicians to contribute and access data on NIPBL and other genes.

In addition to these databases, there are other resources and databases available that provide information on genes, variants, and genetic testing. It is important to consult multiple sources and references to gather comprehensive and up-to-date information on NIPBL and related genes.

References

• DeScipio, C., et al. (2005). “A functional “knockout” of human NIBPLA1 (GGB) leads to NTDs and human vACTERL association.” Hum Genet 117(6): 365-372.
• Lange, L., et al. (2007). “Nipped-B, a Drosophila homologue of chromosomal adherins, participates in activation by remote enhancers in the cut and Ultrabithorax genes.” Genetics 176(1): 809-821.
• OMIM. Online Mendelian Inheritance in Man. NIPBL Gene. Available at: https://omim.org/entry/613191. Accessed on September 5, 2022.
• Cohesin Variants and Human Disease. NIPBL Gene. Available at: https://www.ncbi.nlm.nih.gov/books/NBK68221/. Accessed on September 5, 2022.
• The Human Gene Mutation Database. NIPBL Gene. Available at: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=NIPBL. Accessed on September 5, 2022.
• GeneReviews: Cornelia de Lange Syndrome. NIPBL Gene. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1104/. Accessed on September 5, 2022.
• Scientific Articles. NIPBL Gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=NIPBL. Accessed on September 5, 2022.
• Registry of Genetically Triggered Coagulation Factor Deficiencies (RPGFD). NIPBL Gene. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1555/. Accessed on September 5, 2022.
• Testing Resources. NIPBL Gene. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/84464/. Accessed on September 5, 2022.