A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families

Content Provider	Semantic Scholar
Author	Yang, Guoxing Xiong, Chunlei Li, Shanlan Wang, Yuanyuan Zhao, Jia-Liang
Copyright Year	2011
Abstract	PURPOSE Congenital cataract is a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the mutation responsible for autosomal dominant congenital coralliform cataracts in two Chinese families and to investigate the relationship between virulence genes and lens morphology. METHODS Patients received a physical examination, and blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the candidate genes: gammaC-crystallin (CRYGC), gammaD-crystallin (CRYGD), gammaS-crystallin (CRYGS), gap-junction protein, alpha 8 (GJA8), gap-junction protein, alpha 3 (GJA3), and alphaA-crystallin (CRYAA). RESULTS The affected individuals in two families had congenital coralliform cataracts. Mutational analysis of the CRYGD identified a C→A transversion at nucleotide position c.70 in exon 2, which resulted in a threonine substitution for proline at amino-acid residue 24 (P24T). This mutation was identified in all affected individuals but was not found in healthy relatives or 100 control chromosomes from the same ethnic background. CONCLUSIONS Our results indicated that the P24T mutation of CRYGD was responsible for two Chinese pedigrees with congenital coralliform cataracts. CRYGD and coralliform cataracts are highly related, and P24T may be a hot-point mutation for this disorder.
Starting Page	1085
Ending Page	1089
Page Count	5
File Format	PDF HTM / HTML
PubMed reference number	21552497
Journal	Medline
Volume Number	17
Alternate Webpage(s)	http://www.molvis.org/molvis/v17/a123/mv-v17-a123-yang.pdf
Journal	Molecular vision
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article