【摘 要】
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Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels.A unique cataract was observed in a 4-generati
【机 构】
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Basic Medical School, Wuhan University, Wuhan, 430071 China
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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 characterized with autosomal dominant inheritance and late-onset.Since 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 molecular basis and underlying mechanisms of congenital cataract is limited and remain to be further explored.We aimed to find the cataract-genesis gene mutations of these 13 genes in this family.
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