Relevance to Autism

Clinical characterization of 15 patients from 14 unrelated families with megaconial type congenital muscular dystrophy caused by CHKB mutations found that 8/15 patients presented with autistic features/behavioral problems (Haliloglu et al., 2015). A homozygous frameshift variant in CHKB was previously identifed in a patient with megaconial type congenital muscular dystrophy and a diagnosis of autistic spectrum disorder (Quinlivan et al., 2013). More recently, Bardhan et al. 2021 reported five children with megaconial type congenital muscular dystrophy from four Indian families, all of whom presented with autistic features and stereotypic hand movements; one of these patients was reported to have autistic spectrum disorder.

Molecular Function

The protein encoded by the CHKB gene catalyzes the first step in phosphatidylethanolamine biosynthesis and consequently plays as a key role in phospholipid biosynthesis. Homozygous or compound heterozygous mutations in this gene are responsible for megaconial type congenital muscular dystrophy (OMIM 602541).

External Links

References