机构：[1]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, 100730, China研究所眼科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院
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摘要：
PURPOSE: To report the identification of a novel mutation of connexin46 in a large Chinese family with autosomal dominant congenital nuclear pulverulent cataract. METHODS: Genetic linkage analysis was performed on the known genetic loci for autosomal dominant congenital nuclear pulverulent cataract with a panel of polymorphic markers and mutations were screened by direct sequencing. RESULTS: Significant two point lod score was generated at marker D13S175 (Z(max)=3.61, theta=0), further linkage and haplotype studies confined the disease locus to 13q11-13. Mutation screening of connexin46 in this family revealed an A->C transition at position 563 (N188T) of the cDNA sequence, creating a novel AleI restriction site that co-segregated with affected members of the pedigree, but was not present in unaffected relatives or 100 normal individuals. CONCLUSIONS: Our finding expands the spectrum of connexin46 mutations causing autosomal dominant congenital nuclear pulverulent cataract, and confirms the role of connexin46 in the pathogenesis of autosomal dominant congenital nuclear pulverulent cataract.
第一作者机构：[1]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, 100730, China[*1]Beijing institute of Ophthalmology, Beijing Tongren Hospital, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China
通讯作者：
通讯机构：[1]Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, 100730, China[*1]Beijing institute of Ophthalmology, Beijing Tongren Hospital, Hougou Lane 17, Chong Nei Street, Beijing, 100730, China
推荐引用方式(GB/T 7714)：
Li Y,Wang J,Dong B,et al.A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract[J].MOLECULAR VISION.2004,10(79-80):668-671.
