Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J.
Van Bergen NJ, et al.
J Exp Med. 2020 Oct 5;217(10):e20192040. doi: 10.1084/jem.20192040.
J Exp Med. 2020.
PMID: 32639540
Free PMC article.
Family 1 had two offspring with a homozygous truncating variant in EXOC2 that leads to nonsense-mediated decay of EXOC2 transcript, a severe reduction in exocytosis and vesicle fusion, and undetectable levels of EXOC2 protein. ...The discovery of mutations th …
Family 1 had two offspring with a homozygous truncating variant in EXOC2 that leads to nonsense-mediated decay of EXOC2 transc …