Mar 30, 2023
Methyl-CpG binding domain protein 5
The MBD5 gene is a member of a family of genes called the Methyl-CpG binding domain (MBD) genes that are involved in regulating gene expression by modifying chromatin. The MBD of MBD5 is involved in binding non-methylated DNA at chromocenters (Laget et al., 2010). This gene is expressed moderately in the cerebellum and weakly throughout the rest of the brain and spinal word (Nagese et al., 2000) . Multiple studies have reported individuals with changes involving the MBD5 gene that also exhibited neurodevelopmental symptoms such as intellectual disability, autism, and/or epilepsy (Talkowski et al., 2011, Wagenstaller et al., 2007, Carvill et al., 2013).
A heterozygous change in this gene was identified in a UDN participant.
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