Figure 1.

Pedigree and mutation analysis. (a) Pedigree of a three-generation Chinese family with congenital cataracts. The proband is indicated with an arrow. Squares and circles symbolize male and female individual, respectively. Black symbol indicates cataract affected status and white symbol indicates unaffected status. (b) DNA sequence chromatogram analysis. DNA sequence chromatograms of the unaffected members (top) and affected members (bottom) in the pedigree. Fifteen bases deletion in exon 2 causes a conservative deletion of LEGTL from codon 143–147 (p.143_147del). (c) Evolutionary sequence conservation analysis. Multiplex sequence alignment of connexin 50 from different species reveals that codon 143–147, where the mutation (p.143_147del) occurred, is located within a highly conserved region. (d) Allelic spectrum of reported disease-associated mutations. Schematic diagram of genomic structure of human GJA8 gene and allelic spectrum of diseases mutations are shown. The identified mutation in this study is marked with red line. CL (C1/C2/C3): cytoplasmic loop domain; TM: transmembrane domain; E1:extracellular domain 1; E2: extracellular domain 2.