%0 Journal Article
%T A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract.
%A Liu Y
%A Ye Z
%A Yu H
%A Zhang Y
%A Li Z
%J Gene
%V 927
%N 0
%D 2024 Nov 15
%M 38909969
%F 3.913
%R 10.1016/j.gene.2024.148726
%X Congenital cataract is one of the leading causes of vision loss in children, and a large proportion of cases are related to genetics. In a Chinese family, we reported a new missense mutation in CRYBA2 (c.223T>C: p.Tyr75His), which can cause autosomal dominant congenital bilateral cataract. We collected blood samples from family members (mother and two sons) and extracted DNA. Through whole-exome sequencing, we discovered a novel unreported mutation. According to relevant ACMG guidelines, this mutation was determined to be a variant of unknown clinical significance. This article further expands the site information on the CRYBA2 mutations.