title: Novel mutations in CRYGD are associated with congenital cataracts in Chinese families.
abstract: Congenital cataract disease is a clinically and genetically heterogeneous lens disorder. The purpose of this study was to identify the genetic defects and to investigate the relationships between disease-causing genes and lens morphology in congenital cataracts. Patients were given a physical examination, and their blood samples were collected for DNA extraction. Mutation analysis was performed by direct sequencing of the following candidate genes: CRYGC, CRYGD, CRYGS, GJA8, GJA3 and CRYAA. Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. The p.E135X mutation is a de novo mutation. Haplotype analysis showed patients inherited the same CRYGD allele originated from father. The p.E135X mutation seen in two siblings suggests a mechanism of gonadal mosaicism in the father.
authors.affiliation: Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing, China.|Department of Opthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.|Hebei Provincial Key laboratory of ophthalmology, Hebei, China.
authors.forename: Guoxing
authors.initials: G
authors.lastname: Yang
authors.affiliation: Department of Opthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Opthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Wulin
authors.initials: W
authors.lastname: Zhang
authors.affiliation: Department of Opthalmology, Hebei Provincial Ophthalmic Hospital, Hebei, China.
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing, China.
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
mesh_terms: D044466:Asian People / Q000235:genetics*; D002386:Cataract / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D038222:gamma-Crystallins / Q000235:genetics*
chemical_list: C504903:CRYGD protein, human; D038222:gamma-Crystallins