A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.

In conclusion, c.10T>A (p.W4R) in GJA8 is the newly identified genetic cause of familial congenital cataract. The W-to-R substitution near the amino-terminus may alter the localization of mutant Cx50, thereby impairing gap junction formation, which is the molecular pathogenic mechanism of this mutation. PMID: 29434075 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/29434075?dopt=Abstract

Source: The Tohoku Journal of Experimental Medicine - February 13, 2018 Category: Research Authors: Zhang L, Liang Y, Zhou Y, Zeng H, Jia S, Shi J Tags: Tohoku J Exp Med Source Type: research