A Novel Mutation in the Connexin50 Gene in a Chinese Family With Autosomal Dominant Congenital Nuclear Pulverulent Cataract

Abstract

Purpose: : 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).

Methods: : 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.

Results: : Significant two–point lod score was generated at marker D1S2346 (Zmax=1.985,&#952=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

Conclusions: : Our finding expands the spectrum of GJA8 mutations causing ADCC, and further confirms the role of GJA3 in the pathogenesis of ADCC.

Keywords: cataract • linkage analysis • mutations