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A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family

✍ Scribed by Binbin Wang; Changhong Yu; Yi-Bo Xi; Hong-Chen Cai; Jing Wang; Sirui Zhou; Shiyi Zhou; Yi Wu; Yong-Bin Yan; Xu Ma; Lixin Xie

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
206 KB
Volume
32
Category
Article
ISSN
1059-7794

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✦ Synopsis

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. Β© 2010 Wiley-Liss, Inc.

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