English

MBD5

Gene product: Methyl-CpG Binding Domain Protein 5.

Protein function: It belongs to the methylated CpG binding protein family and is involved in DNA methylation, which can lead to changes in chromatin structure and mediate some gene silencing [1].

Phenotype: Intellectual developmental disorder (AD)[2]; Lennox-Gastaut Syndrome (AD)[3]; Infantile Epileptic Spasms Syndrome (AD)[3]; Epilepsy With Myoclonic-Atonic Seizures (Doose Syndrome)(AD)[3].

Mutation database: ClinVar.

Clinical research: PubMed（PMID: 33912662 (Neurol Genet. 2021)）

Medication reminder: The choice of medication is mainly based on the different epilepsy syndromes. Some children respond to valproate sodium, while carbamazepine may aggravate epileptic seizures in some children [3].

 

References:

  1. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet. 2011 Oct 7;89(4):551-63.
  2. MBD5-related intellectual disability in a Vietnamese child. Am J Med Genet A. 2021 Apr;185(4):1321-1323.
  3. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurol Genet. 2021 Mar 18;7(2):e579.