On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A change in the MBD5 gene was identified in a UDN participant with seizure-like episodes, laryngeal cleft, difficulty swallowing (dysphagia), events of low blood sugar (recurrent hypoglycemia), and an abnormal brain MRI

Date of Report

Mar 30, 2023

Full Name

Methyl-CpG binding domain protein 5

Chromosome 2 (2q23.1)


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).

Database Links

GeneCards: MBD5

MedlinePlus Genetics: MBD5 gene

NCBI Gene: 55777

OMIM: 611472

UniProtKB/Swiss-Prot: Q9P267

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene MBD5
Inheritance Pattern Autosomal dominant
Position (hg19) chr2:g.148814558_ 149113696del
Transcript NM_018328.4
DNA Change c.-925+35305_ -557+13791del
Protein Change N/A
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