Relevance to Autism

A homozygous missense variant in the POMGNT1 gene that was predicted to be damaging in silico was identifed in a male ASD proband born to consanguineous parents (Yu et al., 2013). Additional homozygous variants in the POMGNT1 gene had previously been identified in patients with a form of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3; OMIM 253280), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), who also presented with severe autistic features (Haliloglu et al., 2004; Hehr et al., 2007).

Molecular Function

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies.

External Links

References