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A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family
Author(s) -
Wang Binbin,
Yu Changhong,
Xi YiBo,
Cai HongChen,
Wang Jing,
Zhou Sirui,
Zhou Shiyi,
Wu Yi,
Yan YongBin,
Ma Xu,
Xie Lixin
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21386
Subject(s) - biology , genetics , haplotype , mutation , transition (genetics) , mutant , gene , arginine , chinese family , allele , microbiology and biotechnology , amino acid
To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the CRYGD gene revealed a c.127T>C transition, which resulted in a substitution of a highly conserved tryptophan with arginine at codon 43 (p.Trp43Arg). This mutation co‐segregated with all affected individuals and was not observed in either unaffected family members or in 200 normal unrelated individuals. Biophysical studies indicated that the p.Trp43Arg mutation resulted in significant tertiary structural changes. The mutant protein was much less stable than the wild‐type protein, and was more prone to aggregate when subjected to environmental stresses such as heat and UV irradiation. © 2010 Wiley‐Liss, Inc.