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Y. Li, B. Dong, J. Wang; A Novel Mutation in the Connexin50 Gene in a Chinese Family With Autosomal Dominant Congenital Nuclear Pulverulent Cataract . Invest. Ophthalmol. Vis. Sci. 2006;47(13):2523.
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Inherited cataract is a clinically and genetically heterogeneous disease that causes 10–30% of all blindness of children. Here, we reported the identification of a novel mutation of connexin50 (GJA8) in a four generation Chinese family with autosomal dominant congenital nuclear pulverulent cataract (ADCC).
Genetic linkage analysis was performed on the known genetic loci for ADCC with a panel of polymorphic markers, then we screened mutations by direct sequencing.
Significant two–point lod score was generated at marker D1S2346 (Zmax=1.985,θ=0), further linkage and haplotype studies confined the disease locus to 1q21–25. Mutations screening of connexin50 in this family revealed a C→A change at position –27 of the intron 1 sequence deleting an AluI restriction site that co–segregated with all affecterelatives or 100 normal individuals. d members of the pedigree, but is not present in unaffected
Our finding expands the spectrum of GJA8 mutations causing ADCC, and further confirms the role of GJA3 in the pathogenesis of ADCC.
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