Relevance to Autism

Mutations in the DEPDC5 gene have been implicated in familial focal epilepsy with variable foci (FFEVF) and autosomal dominant focal epilepsies (Dibbens et al., 2013; Ishida et al., 2013; Scheffer et al., 2014). In one FFEVF family (A1) reported in Dibbens et al., 2013, three affected family members also had ASD, including one individual with ASD who had not had seizures. Scheffer et al., 2014 identified a maternally-inherited nonsense variant in the DEPDC5 gene in a family with 6 affected males presenting with focal epilepsy (family A); one of the affected males in this family also presented with severe intellectual disability and ASD.

Molecular Function

Unknown function; shared homology with G protein signaling molecules and neuronal localization suggest a role in neuronal signal transduction.

External Links

References