Relevance to Autism

A likely damaging missense variant in the CASK gene was identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. A de novo possibly damaging missense variant in CASK was identified in a female proband from the Deciphering Developmental Disorders (DDD) study presenting with autism, ADHD, developmental delay, and hypotonia (PMID 25533962). Mutations in this gene are associated with FG syndrome 4 (OMIM 300422) and mental retardation and microcephaly with pontine and cerebellar hypoplasia (OMIM 300749). CASK interacts with the high confidence ASD gene TBR1 (Hsueh et al., 2000).

Molecular Function

This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK (membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4 (OMIM 300422) and mental retardation and microcephaly with pontine and cerebellar hypoplasia (OMIM 300749).

External Links

References