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).
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).
Type of Disorder
Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.