Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

ABSTRACT: The corpus callosum is a bundle of axon fibres that connects the two hemispheres of the brain. Neurodevelopmental disorders that feature dysgenesis of the corpus callosum as a core phenotype offer a valuable window into pathology derived from abnormal axon development. Here, we describe a cohort of eight patients with a neurodevelopmental disorder characterized by a range of deficits including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy and autistic features. Each patient harboured a distinct de novo variant in MYCBP2, a gene encoding an atypical really interesting new gene (RING) ubiquitin ligase and signalling hub with evolutionarily conserved functions in axon development. We used CRISPR/Cas9 gene editing to introduce disease-associated variants

SUBMITTER: AlAbdi L 

PROVIDER: S-EPMC10319777 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature