An Identical AlphaA-crystallin Mutation (R54C) Leads to Recessive Cataracts in Humans and Mice

A novel mutation impairing the tertiary

A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens

✍ Xiao-Qiao Li; Hong-Chen Cai; Shi-Yi Zhou; Ju-Hua Yang; Yi-Bo Xi; Xiao-Bo Gao; We 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 593 KB

Congenital cataract is one of the leading causes of human blindness. In this study, we identified a novel, heterozygous c.385G>T mutation in CRYGC that resulted in the substitution of a highly conserved glycine by cysteine at codon 129 (p.Gly129Cys) in a three-generation Chinese family with autosoma