中文摘要：

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels.A unique cataract was observed in a 4-generation Chinese family,which was characterized by autosomal dominant inheritance and late-onset.Mutations in the 13 known genes (CRYAA,CRYAB,CRYBB1,CRYBB2,CRYGC,CRYBA1/A3,CRYGD,Connexin50,Connexin46,intrinsic membrane protein LIM2,cytoskeletal protein BFSP2,the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts,but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene.Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes.The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family,and only several single-nucleotide polymorphisms (SNPs) were identified.A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family,but further study showed that these mutations could also be found in normal controls.It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family.A genome-wide screening will be carried out in the next study.

英文摘要：

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels.A unique cataract was observed in a 4-generation Chinese family,which was characterized by autosomal dominant inheritance and late-onset.Mutations in the 13 known genes (CRYAA,CRYAB,CRYBB1,CRYBB2,CRYGC,CRYBA1/A3,CRYGD,Connexin50,Connexin46,intrinsic membrane protein LIM2,cytoskeletal protein BFSP2,the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts,but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.This study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing gene.Polymerase chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 genes.The results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family,and only several single-nucleotide polymorphisms (SNPs) were identified.A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family,but further study showed that these mutations could also be found in normal controls.It was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family.A genome-wide screening will be carried out in the next study.