Alternate gene names: KIAA1461
Associated syndromes or conditions: Intellectual disability type 1 (formerly called "mental retardation" type 1); Kleefstra syndrome
Genomic location: 2q23.1

Diagnoses observed in people with changes in the MBD5 gene:

  • Autism Spectrum Disorder - Yes
  • Intellectual Disability or Developmental Delay - Yes
  • Epilepsy or Seizures - Yes
  • Attention Deficit Hyperactivity Disorder - No
  • Schizophrenia - No
  • Bipolar Disorder - No

Support Resources:


Research Opportunities:

In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunties.

  • TIGER Study: The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with changes in MBD5.
    Click here to learn more about this opportunity.


Infographic:


Research Article Summaries:

Below, we've summarized several research articles that include information about MBD5. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Giriagan et al. (2013)
    In this study, 2,588 individuals with features of autism from the Simons Simplex Collection were screened for changes in 44 genes that may be related to autism. It was found that three of the 2,588 individuals had a MBD5 gene change.

     

  • O’Roak et al. (2012)
    Whole exome sequencing was performed for 209 families (677 individuals) who had participated in the Simons Simplex Collection (SSC). The SSC study included children with autism and intellectual disability. This study identified over 100 new candidate genes related to developmental delay, intellectual disability and/or features of autism, including an individual with a change in the MBD5 gene (a gene known to be involved in causing intellectual disability) that was not inherited from either parent (de novo).

     

  • Kleefstra et al. (2012)
    Kleefstra syndrome spectrum (KSS) is a rare genetic disorder caused by variations in a gene called EHMT1. Some of the features that are associated with KSS are intellectual disability, hypotonia (low muscle tone), and distinct facial features. Until very recently, the only gene known to cause KSS was EHMT1. In this study, the group sought to identify the cause of KSS in individuals that did not have a gene change in the EHMT1 gene. The group found mutations in MBD5, MLL3, SMARCB1 and NR113.

     

  • Carvill et al. (2012)
    A group of 65 genes either known or suspected to cause epilepsy were selected for genetic sequence analysis. The set of genes studied by this group of researchers are called “epilepsy-associated genes.” In this study, it was found that an alteration in the MBD5 gene was thought to be related to the neurodevelopmental differences (such as autism spectrum disorder and epilepsy) in one person.


You can also visit SFARI's website to see information for researchers about this gene. SFARIgene: MBD5

Back to: Genetic Changes We're Studying