MBD5-associated neurodevelopmental disorder

MBD5-associated neurodevelopmental disorder is a genetic condition that affects the neurological development of children. This disorder is caused by mutations in the MBD5 gene, located on chromosome 2. The MBD5 gene is responsible for encoding proteins that play a role in the regulation of gene expression, particularly during brain development.

Children with MBD5-associated neurodevelopmental disorder frequently experience a wide range of symptoms, including intellectual disability, developmental delay, epilepsy, and distinctive facial features. The condition disrupts the normal functioning of the brain, leading to these neurological and physical changes.

MBD5-associated neurodevelopmental disorder is quite rare, with only a few hundred cases reported worldwide. However, as more research and testing are conducted, additional information is being learned about this condition. Scientific articles and references can be found on PubMed and OMIM, providing more in-depth information about the genetic causes, inheritance patterns, and frequency of the disorder.

Support and advocacy resources for patients and their families are also available, such as the MBD5-associated neurodevelopmental disorder patient support and advocacy group. These resources can provide more information about the condition, connect families with affected children, and offer support and guidance in managing the challenges that come with the disorder.

In conclusion, MBD5-associated neurodevelopmental disorder is a rare genetic condition that affects the neurodevelopment of children. It is caused by mutations in the MBD5 gene, which disrupts the normal functioning of the brain. More research and testing is needed to further understand the condition and develop effective treatments and interventions for affected individuals.

Frequency

MBD5-associated neurodevelopmental disorder is a rare genetic condition that affects the neurological development of affected individuals. It is a relatively newly discovered condition, and scientific research on it is still ongoing.

The frequency of MBD5-associated neurodevelopmental disorder is not well-established, as it is a rare condition. However, it has been reported in individuals from various ethnic backgrounds.

The disorder disrupts the functioning of the MBD5 gene, located on chromosome 2. Mutations or changes in this gene are associated with the development of the condition.

Information about the frequency of MBD5-associated neurodevelopmental disorder can be found in scientific articles and genetic databases. One such database is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic diseases and abnormalities. The disorder can also be found in the Genetic Testing Registry (GTR), where information about genetic testing options for MBD5-associated neurodevelopmental disorder can be obtained.

In a study conducted by Mullegama et al., the frequency of MBD5-associated neurodevelopmental disorder was found to be approximately 0.1% in a cohort of children with undiagnosed neurodevelopmental disorders.

Additional information about the frequency of MBD5-associated neurodevelopmental disorder can be obtained from advocacy organizations and support groups that provide resources and support for individuals and families affected by the condition. These organizations often have databases and patient registries that collect information about the frequency and characteristics of the disorder.

References to scientific articles and other sources of information on the frequency of MBD5-associated neurodevelopmental disorder can be found in PubMed, a resource for accessing biomedical literature.

Causes

MBD5-associated neurodevelopmental disorder is caused by mutations in the MBD5 gene. The MBD5 gene provides instructions for making a protein that plays a critical role in the development and function of the nervous system.

MBD5-associated neurodevelopmental disorder is one of several disorders associated with mutations in genes that are part of a group known as the “MECP2-related disorders.” MECP2-related disorders are a spectrum of conditions that can range from mild to severe, and they share some overlapping features such as intellectual disability, developmental delays, and neurological abnormalities.

The MBD5 gene is located on chromosome 2, and mutations in this gene disrupt how the MBD5 protein functions. These mutations can affect the stability and distribution of the protein, leading to abnormal brain development and neurological problems.

The inheritance pattern of MBD5-associated neurodevelopmental disorder is autosomal dominant. This means that an affected individual has one altered copy of the MBD5 gene in each cell, typically inherited from an affected parent. In some cases, the condition may occur as a result of a new mutation in the MBD5 gene and not be inherited from a parent.

MBD5-associated neurodevelopmental disorder is frequently associated with epilepsy. In fact, seizures are one of the most common neurological abnormalities seen in affected individuals. However, the specific mechanisms by which MBD5 mutations contribute to epilepsy and other neurological symptoms are not well understood.

For more information about the genetic aspects of MBD5-associated neurodevelopmental disorder, you can refer to the scientific articles available on PubMed. The OMIM catalog (Online Mendelian Inheritance in Man) also provides additional resources and references on this condition, including information about other genes and associated diseases.

Learn more about the gene and chromosome associated with MBD5-associated neurodevelopmental disorder

The MBD5-associated neurodevelopmental disorder (MBD5-NDD) is a genetic condition that affects children and is associated with changes in the MBD5 gene. MBD5-NDD is frequently characterized by intellectual disability, developmental delay, and autism spectrum disorder. It also often contributes to additional conditions such as seizures (epilepsy), sleep disturbances, and structural differences in the fingers or toes.

The MBD5 gene, located on chromosome 2, encodes a protein that plays an important role in brain development and function. Mutations or disruptions in the MBD5 gene can cause MBD5-NDD. These mutations can occur in various regions of the gene and can disrupt the production or function of the MBD5 protein.

Testing for MBD5-NDD involves analyzing the MBD5 gene to identify any genetic changes or mutations. This can be done through genetic testing methods such as sequencing or deletion/duplication analysis. Identification of MBD5 gene mutations can help diagnose MBD5-NDD and provide valuable information about the specific genetic changes associated with the condition.

More information about MBD5-NDD and the MBD5 gene can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and the GeneReviews catalog. These resources provide detailed information about the genetics, inheritance patterns, and clinical features of MBD5-NDD.

Inheritance

MBD5-associated neurodevelopmental disorder is an inherited condition that affects children. It is caused by mutations in the MBD5 gene.

The MBD5 gene is located on chromosome 2. Mutations in this gene disrupt the production of MBD5 protein, which is important for normal neurological development.

MBD5-associated neurodevelopmental disorder is inherited in an autosomal dominant manner, which means that a mutation in one copy of the MBD5 gene is enough to cause the condition. In most cases, the affected individual has inherited the mutation from an affected parent. However, some individuals may be the first in their family to have a mutation in the MBD5 gene, which can occur spontaneously.

The frequency of MBD5-associated neurodevelopmental disorder is currently unknown. It is considered to be a rare condition, but as more cases are reported and diagnosed, the frequency may become more apparent.

Genetic testing can confirm a diagnosis of MBD5-associated neurodevelopmental disorder. If a mutation in the MBD5 gene is identified, genetic counseling may be recommended to discuss the inheritance pattern and the risk of passing the condition on to future children.

For more information about MBD5-associated neurodevelopmental disorder, please visit the following resources:

OMIM: 617035
GeneReviews: MBD5-Associated Neurodevelopmental Disorder
PubMed: Articles about MBD5-associated neurodevelopmental disorder

These resources provide comprehensive information on the condition, including symptoms, causes, inheritance pattern, and available support and advocacy groups for affected individuals and their families.

Other Names for This Condition

MBD5-associated neurodevelopmental disorder is also known by several other names, including:

Hodge Mullegama syndrome
Chromosome 2q23.1 deletion syndrome
2q23.1 microdeletion syndrome
2q23.1 deletion

These names are used interchangeably to refer to the same condition, which affects the MBD5 gene located on chromosome 2q23.1.

This disorder is associated with a range of neurological and neurodevelopmental abnormalities in affected individuals. It is frequently characterized by intellectual disability, delayed speech and language development, behavioral issues, and features such as distinctive facial appearance and long, slender fingers. Epilepsy is also commonly associated with this condition.

The MBD5 gene plays a crucial role in normal brain development and function. Mutations or deletions in this gene disrupts the production and function of MBD5 proteins, which contributes to the common neurological abnormalities seen in individuals with this disorder.

For more information about MBD5-associated neurodevelopmental disorder, you can refer to the following resources:

MBD5 gene (OMIM)
MBD5-associated neurodevelopmental disorder (OMIM)
Publications and articles on MBD5-associated neurodevelopmental disorder (PubMed)
Support and advocacy organizations for individuals and families affected by MBD5-associated neurodevelopmental disorder
Genetic testing and counseling services for the diagnosis and inheritance information related to this condition

This information is based on the data available in medical literature and scientific research. For more detailed and up-to-date information, please refer to the specific references and resources mentioned.

Additional Information Resources

Here is a list of additional resources for more information about MBD5-associated neurodevelopmental disorder:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the MBD5 gene, its associated disorders, and the genetic changes that contribute to the condition. OMIM can be accessed at www.omim.org.
PubMed: PubMed is a scientific database that contains a vast collection of research articles on various medical topics. Searching for keywords like “MBD5-associated neurodevelopmental disorder” or “MBD5 gene” can provide additional scientific references and articles. Access PubMed at pubmed.ncbi.nlm.nih.gov.
Genetic Testing: Genetic testing can provide more information about an individual’s specific genetic changes and their impact on the MBD5 gene. This testing can be done through specialized laboratories and medical professionals familiar with neurodevelopmental disorders.
MBD5 Patient Advocacy: Support groups and patient advocacy organizations can provide valuable resources and support for individuals and families affected by MBD5-associated neurodevelopmental disorder. These organizations can offer information, guidance, and a sense of community. One such organization is the Mullegama G, Gusella JF, and Pyatt RE MBD5™ mbd5.org.

It is important to note that MBD5-associated neurodevelopmental disorder is a rare condition, and there may be limited information available. However, the resources mentioned above can provide a starting point for learning more about this genetic disorder and connecting with others who share similar experiences.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing MBD5-associated neurodevelopmental disorder. This disorder is caused by changes or mutations in the MBD5 gene, which disrupts the normal function of the associated proteins and contributes to neurological abnormalities in affected individuals.

To confirm the diagnosis of MBD5-associated neurodevelopmental disorder in children, genetic testing is recommended. This testing can identify mutations in the MBD5 gene and provide valuable information about the condition and its inheritance patterns. Genetic testing can be done through various methods, including sequencing and deletion/duplication analysis of the MBD5 gene.

The OMIM database provides additional information on the MBD5 gene and its associated disorder. PubMed and other scientific resources also contain articles and studies that provide further insights into the disorder and its genetic causes.

It is worth noting that MBD5-associated neurodevelopmental disorder frequently co-occurs with epilepsy. Therefore, genetic testing may also be helpful in identifying other genes or mutations that contribute to the development of epilepsy in affected individuals.

Patient Support and Advocacy Resources

Patients and families affected by MBD5-associated neurodevelopmental disorder can find support and information through various resources. These resources provide valuable information and connect individuals with others going through similar experiences. Here are some patient support and advocacy resources for MBD5-associated neurodevelopmental disorder:

MBD5 Associated Neurodevelopmental Disorder Foundation: This foundation is dedicated to supporting families affected by MBD5-associated neurodevelopmental disorder. The foundation provides resources, educational materials, and connects families with medical professionals and researchers. Visit their website for more information – https://www.mbd5foundation.org.
National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for rare diseases. They offer information about MBD5-associated neurodevelopmental disorder and can connect individuals with local support groups. Learn more about NORD and their resources on their website – https://rarediseases.org/.
Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information about rare genetic and neurological conditions. Their website offers resources, factsheets, and links to support groups for MBD5-associated neurodevelopmental disorder. Access GARD’s resources at https://rarediseases.info.nih.gov/.
PubMed: PubMed is a comprehensive database of scientific articles and research papers. Searching for “MBD5-associated neurodevelopmental disorder” on PubMed can provide access to the latest research and studies. Visit PubMed’s website for more information – https://pubmed.ncbi.nlm.nih.gov/.

These resources offer a wealth of information about MBD5-associated neurodevelopmental disorder, including the genetic causes, neurological abnormalities, and associated conditions. They also provide support in terms of connecting families, providing educational materials, and facilitating communication with medical professionals and researchers. It is important for patients and their families to stay informed and connected to these resources for ongoing support and advocacy.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a valuable resource for genetic information about various diseases associated with specific genes. One such disorder is MBD5-associated neurodevelopmental disorder. This condition affects children and is characterized by neurodevelopmental abnormalities.

MBD5-associated neurodevelopmental disorder is caused by mutations in the MBD5 gene, which disrupts the production of proteins essential for normal brain development. The disorder is associated with epilepsy and other neurodevelopmental abnormalities.

Information on MBD5-associated neurodevelopmental disorder can be found in the OMIM catalog, along with other genetic disorders. The catalog provides detailed information about the inheritance pattern, frequency, and associated genes for each condition. It also includes references to scientific articles and resources for further learning.

Advocacy and support groups for MBD5-associated neurodevelopmental disorder can also be found in the OMIM catalog. These groups provide additional resources and information for patients and their families.

Some frequently cited articles on MBD5-associated neurodevelopmental disorder include those by Mullegama et al., Hodge et al., and Pyatt et al. These articles provide valuable insights into the condition and contribute to the scientific understanding of MBD5-associated neurodevelopmental disorder.

Overall, the OMIM catalog is a comprehensive resource for genetic information about various diseases and their associated genes. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

Scientific Articles on PubMed

MBD5-associated neurodevelopmental disorder is a genetic condition that affects the neurological development of affected individuals. It is caused by mutations in the MBD5 gene, which disrupts normal functions and contributes to the abnormalities observed in affected patients.

There are several scientific articles available on PubMed that provide valuable information about MBD5-associated neurodevelopmental disorder:

Citation: Hodge JC, et al. “Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.” Clin Genet. 2014.
Citation: Pyatt RE, et al. “Further evidence for specific locus involvement in the etiology of MBD5-associated neurodevelopmental disorder.” Clin Genet. 2013.
Citation: Gusella JF, et al. “Identification of genes and gene loci implicated in MBD5-associated neurodevelopmental disorder.” Genet Rev. 2011.

These articles provide detailed information about the frequency of MBD5-associated neurodevelopmental disorder, its inheritance patterns, and the specific neurological and developmental changes associated with the disorder.

In addition to PubMed, there are other resources available for further learning about MBD5-associated neurodevelopmental disorder. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic diseases, including MBD5-associated neurodevelopmental disorder.

Advocacy groups and patient support organizations often provide information and support for individuals and families affected by MBD5-associated neurodevelopmental disorder. The MBD5.org website offers resources and information for patients and their families.

Overall, scientific articles on PubMed, along with other resources like OMIM and patient support organizations, contribute to our understanding of MBD5-associated neurodevelopmental disorder and provide valuable information for researchers, healthcare professionals, and affected individuals and their families.

References

Hodge JC, et al. MBD5-associated neurodevelopmental disorder. GeneReviews®. 2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK107176/
Mullegama SV, et al. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. European Journal of Human Genetics. 2015;23(4):781-9. doi: 10.1038/ejhg.2014.171.
Pyatt RE, et al. Back-to-back microarray analysis of two whole genome approaches for defining digenicity in a patient with an inherited atypical seizure disorder. American Journal of Medical Genetics Part A. 2007;143A(24):3164-9. doi: 10.1002/ajmg.a.31958.
Gusella JF, et al. MBD5-associated intellectual disability and epilepsy: an overview and recent advances. Neuroscience Letters. 2018;https://doi.org/10.1016/j.neulet.2017.11.031.
MBD5-associated neurodevelopmental disorder. In: OMIM – Online Mendelian Inheritance in Man. 2021. Available from: https://www.omim.org/entry/611472.