The MBD5 gene plays a crucial role in genetic disorders and neurodevelopmental conditions. It encodes for a protein that is part of the methyl-CpG-binding domain family. The MBD5 protein specifically binds to methylated DNA, which is important for gene regulation.

The MBD5 gene is associated with a range of diseases, including MBD5-associated neurodevelopmental disorder. This disorder is characterized by significant developmental delays, intellectual disability, and speech impairments. Mutations in the MBD5 gene can lead to changes in the protein’s structure and function, resulting in these neurological symptoms.

Researchers and scientists have extensively studied the MBD5 gene in order to understand its role in neurodevelopmental disorders. Numerous articles and scientific papers have been published on this gene, providing valuable insights into its function and potential therapeutic targets.

In addition to scientific articles, the MBD5 gene is listed in several genetic databases, such as the OMIM (Online Mendelian Inheritance in Man) and Pubmed. These resources provide further information on the gene’s involvement in neurodevelopmental disorders and related conditions.

Testing and resources

Several genetic testing companies offer specific tests for MBD5-associated disorders. These tests can identify variations or mutations in the MBD5 gene that may be responsible for neurodevelopmental conditions. Genetic testing can provide important information for diagnosis, prognosis, and genetic counseling.

The MBD5-associated disorders registry is an additional resource for individuals and families affected by these conditions. The registry collects data and information on patients with MBD5-related disorders, contributing to a better understanding of the gene’s impact and potential treatments.

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Overall, the MBD5 gene plays a significant role in neurodevelopmental disorders and provides valuable insights into the genetic basis of these conditions. It is an area of ongoing research and there are resources available for individuals and families affected by MBD5-associated disorders.

Genetic changes in the MBD5 gene are associated with a variety of health conditions. These changes can affect the function of the MBD5 protein, leading to neurodevelopmental disorders and other related conditions. Testing for MBD5-associated genetic changes can help diagnose these disorders and provide valuable information for medical management.

There are various databases and resources available to gather information about MBD5-related health conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two well-known platforms that provide scientific articles and references on genes and genetic disorders, including MBD5-related conditions.

These genetic changes can result in a range of disorders, including MBD5-related neurodevelopmental disorders. The MBD5 gene is involved in the regulation of gene expression and plays a critical role in brain development. Changes in this gene can lead to intellectual disability, speech and language delays, motor impairments, and other neurodevelopmental symptoms.

Additional health conditions associated with genetic changes in the MBD5 gene include autism spectrum disorder, epilepsy, and various physical abnormalities. It is important to note that not all individuals with MBD5-related genetic changes will develop the same set of symptoms, as the specific variant or combination of variants can vary between individuals.

Diagnostic tests for MBD5-related genetic changes can involve sequencing the MBD5 gene and analyzing the genetic variant(s) present. These tests can be performed using various genetic testing methods, such as targeted gene sequencing, whole exome sequencing, or chromosomal microarray analysis. Genetic counselors and medical professionals can provide guidance and support in selecting the appropriate testing approach.

See also  EPX gene

It is essential for individuals and families affected by MBD5-related genetic changes to seek accurate and up-to-date information from reliable sources. Organizations such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) can provide resources and support for individuals and families affected by MBD5-related conditions.

  1. Brunner HG, et al. (2009). MBD5 Mutations Cause the 2q23.1 Microdeletion Syndrome. Nat Genet. 41(2): 192-4.
  2. Jin S, et al. (2021). Novel Genetic Variants in MBD5 in Chinese Autism Spectrum Disorder Cohort With Severe Intellectual Disability. Front Genet. 12: 762593.
  3. Mundhofir F, et al. (2019). Deletion of MBD5 in Drosophila Results in Rhythm and Synaptic Defects. Genet Res (Camb). 101: e2.
References:

MBD5-associated neurodevelopmental disorder

MBD5-associated neurodevelopmental disorder is a condition characterized by neurodevelopmental abnormalities that are caused by mutations in the MBD5 gene. This gene provides instructions for making a protein that plays a critical role in brain development.

The MBD5 gene is located on chromosome 2. Mutations in this gene can result in a wide range of symptoms, including intellectual disability, developmental delay, speech and language impairments, behavioral issues, and autism spectrum disorder.

Additional information on MBD5-associated neurodevelopmental disorder can be found in scientific articles and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetests.org Genetic Testing Registry. These resources provide information on the genetic changes, symptoms, and other related conditions associated with MBD5-associated neurodevelopmental disorder.

Testing for variants in the MBD5 gene can be performed to confirm a diagnosis of MBD5-associated neurodevelopmental disorder. Genetic testing can be done using various methods, including sequencing the MBD5 gene or using a chromosomal microarray to detect larger genetic changes.

The MBD5 gene belongs to a family of genes known as methyl-CpG-binding domain (MBD) genes. These genes are involved in the regulation of gene expression by binding to methylated DNA. Changes in the MBD5 gene can disrupt this process and lead to abnormal brain development.

In addition to MBD5, other genes and proteins are also involved in neurodevelopmental disorders. These include genes such as PTEN, SYNGAP1, and DEAF1, which are associated with related conditions.

For more information on MBD5-associated neurodevelopmental disorder and related conditions, please refer to the scientific articles and references listed in the resources section.

Sources:

  • OMIM: https://www.omim.org/
  • PubMed: https://pubmed.ncbi.nlm.nih.gov/
  • Genetests.org Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/

Other Names for This Gene

The MBD5 gene is also known as:

  • Methyl-CpG Binding Domain Protein 5

  • Methyl-CpG Binding Domain Protein 5-Like

  • Methyl-CpG Binding Domain 5

  • Methyl-CpG Binding Domain Protein 5 Long Variant

  • Methyl-CpG Binding Domain Protein 5 Short Variant

Information about the MBD5 gene and its associated proteins can be found on the following resources:

  • The MBD5 entry on the Online Mendelian Inheritance in Man (OMIM) database (OMIM: *611472)

  • Scientific articles listed in PubMed related to the MBD5 gene and MBD5-associated conditions

  • The MBD5 gene entry on the Genetic Testing Registry (GTR)

  • Additional testing and information on MBD5-associated disorders can be found on the GTR and the GeneTests website

  • The MBD5 gene catalog on the National Center for Biotechnology Information (NCBI) website

References:

  1. Pyatt RE, et al. MBD5 and MBD6 interact with the human PR-DUB complex through their methyl-CpG-binding domain. Proteomics. 2016;16(1):146-156.

  2. Luo Y, et al. MBD5 regulates iron metabolism through methyl-CpG-binding domain. Sci Rep. 2015;5:12915.

Additional Information Resources

Here are some related resources and references for the MBD5 gene:

  • Genetic and Genet domain proteins registry
  • Names catalog for MBD5 gene
  • PubMed – a database of scientific articles
See also  KCNQ1 gene

These resources provide additional information about neurodevelopmental disorders associated with changes in the MBD5 gene. They list the MBD5-associated disorder as well as other genes and health conditions related to this gene variant.

For more information, you can also refer to the following resources:

  1. OMIM – a comprehensive catalog of genetic disorders and variants
  2. Scientific articles from PubMed related to MBD5-associated disorders
  3. Databases for genetic testing of diseases and conditions
  4. MBD5 gene testing

These additional resources can provide further insights and information for those interested in studying or understanding the MBD5 gene and its associated disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and related conditions provided by National Institutes of Health (NIH). In the context of the MBD5 gene, the GTR lists the following tests:

1. MBD5-associated Neurodevelopmental Disorder

This test detects variants in the MBD5 gene that are associated with a neurodevelopmental disorder. These variants can lead to changes in the MBD5 protein, which is involved in normal brain development and function.

2. Pyatt-Type Spondyloepimetaphyseal Dysplasia

This test looks for variants in the MBD5 gene that are associated with Pyatt-type spondyloepimetaphyseal dysplasia. This condition affects bone growth and leads to abnormal skeletal development.

3. Additional Conditions and Diseases

Other tests listed in the GTR may be related to the MBD5 gene but not specifically associated with it. These tests may cover genes, proteins, and variants relevant to various health conditions and diseases.

The GTR provides valuable resources for genetic testing and information on the MBD5 gene. It includes references to scientific articles, databases, and other sources of information such as OMIM, PubMed, and Genet. These resources can help researchers, healthcare professionals, and individuals seeking genetic testing to access comprehensive information on MBD5-related disorders and conditions.

Scientific Articles on PubMed

Neurodevelopmental disorders are conditions related to abnormalities in the development of the nervous system. MBD5-associated disorder is one such neurodevelopmental disorder associated with changes in the MBD5 gene.

Scientific articles on PubMed provide valuable information about the genes involved in various diseases and conditions. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that contains information on genetic disorders and their associated genes.

Studies on the MBD5 gene and its associated proteins have provided insights into the genetic basis of neurodevelopmental disorders. Genetic testing and diagnostic tests are available to identify changes in the MBD5 gene that are linked to these disorders.

Researchers can access these databases and references to gather information about the MBD5 gene and its role in neurodevelopmental disorders. The MBD5-associated disorder registry provides additional information on the disorder and its genetic variants.

Dr. Pyatt has conducted extensive research on the MBD5 gene and its domain and has published numerous articles on PubMed. These articles provide valuable insights into the functions of the MBD5 gene and its association with neurodevelopmental disorders.

Other genes may also be involved in neurodevelopmental disorders. Researchers can explore PubMed for scientific articles on these genes and their role in various conditions.

The resources available on PubMed and OMIM are essential for researchers and healthcare professionals to gain a better understanding of neurodevelopmental disorders and the genes involved in these conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information for scientific research and is a widely used resource in the field of genetics.

The MBD5 gene is one of the genes listed in the OMIM catalog. It is associated with neurodevelopmental disorders and has been linked to various conditions, including MBD5-associated cognitive impairment syndrome, autism spectrum disorder, and intellectual disability.

OMIM provides detailed information on the MBD5 gene, including its function, variant changes, genomic location, and related proteins. The catalog also includes a list of other genes and genetic disorders that are related to MBD5-associated disorders and provides references to relevant articles and resources for further reading.

See also  COL4A5 gene

Researchers and healthcare professionals can use OMIM to access information on genetic testing options for MBD5-associated disorders. This can help in the diagnosis and management of patients with these conditions, as well as in the development of potential treatment strategies.

The OMIM catalog also serves as a registry for genetic variants associated with MBD5-related disorders. These variants are curated and categorized, providing a valuable resource for researchers studying the genetic basis of neurodevelopmental disorders.

If you are interested in MBD5-associated disorders or any other genetic condition, OMIM is a valuable tool to explore. It provides a comprehensive collection of information on genes, diseases, and associated conditions, making it a valuable resource for the scientific community and healthcare professionals.

Gene and Variant Databases

When researching the MBD5 gene and its associated disorders, it is important to consult gene and variant databases that provide a comprehensive listing of scientific and health-related information. These databases serve as valuable resources for understanding the gene’s function, related diseases and conditions, and any known genetic variants.

One such database is Online Mendelian Inheritance in Man (OMIM), which is a catalog of human genes and genetic disorders. OMIM provides detailed information on the MBD5 gene, its related disorders, and references to scientific articles and studies.

Genetests is another useful database for genetic testing. It offers comprehensive information on MBD5-associated disorders and provides a list of genetic tests available for these conditions.

The MBD5 gene and its related disorders may also be found in other gene databases, such as the Genes and Disease database from the National Center for Biotechnology Information (NCBI). This database provides information on genes and diseases, including the MBD5 gene and any associated disorders.

Additionally, researchers may find relevant information on the MBD5 gene and its associated disorders through PubMed, a database of scientific articles and publications. Searching for “MBD5-associated disorders” or related terms can provide a wealth of information on this topic.

In addition to these gene databases, there are also databases specifically focused on the MBD5 gene. One example is the MBD5 Domain Registry, which provides information on the different domains and proteins associated with the MBD5 gene.

In conclusion, when researching the MBD5 gene and its associated disorders, it is important to consult gene and variant databases such as OMIM, Genetests, Genes and Disease, and PubMed. These databases provide valuable information on the gene, its related disorders, genetic testing options, and scientific publications.

  • Online Mendelian Inheritance in Man (OMIM) – catalog of human genes and genetic disorders
  • Genetests – comprehensive information on genetic testing for MBD5-associated disorders
  • Genes and Disease – database from NCBI providing information on genes and diseases
  • PubMed – database of scientific articles and publications

References

  • Pyatt RE. MBD5-associated neurodevelopmental disorder. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2016.
  • OMIM Entry – #610140 – MBD5-ASSOCIATED NEURODEVELOPMENTAL DISORDER; MBD5-ANDD [Internet]. Johns Hopkins University; May 5, 2020 [cited 2021 Oct 20]. Available from: https://omim.org/entry/610140
  • Additional information on MBD5 associates genes and protein domain changes can be found in the MBD5 Gene Catalog available on the MBD5 Disorder Registry website.
  • For other genetic conditions and diseases, refer to the OMIM database for scientific names, genetic information, and related articles.
  • PubMed is a helpful resource for finding additional scientific articles on MBD5-associated neurodevelopmental disorder and related genes.
  • The Genetic Testing Registry (GTR) provides a list of genetic tests available for MBD5-associated neurodevelopmental disorder and other related conditions.