Figure 2

DFNB in the affected family segregated with the GJB2 c.235delC and USH2A c.5051C > T mutations. (a) Family pedigree of JSNY-045 and audiograms of two deaf siblings and their parents. (b) The average coverage of each exon of the GJB2 and USH2A genes in the proband (left) and sequencing electropherograms of the heterozygous GJB2 c.235delC and USH2A c.5051C > T mutations (right). (c) A novel c.5051C > T variant and six previously reported mutations in USH2A exon 25. (d) Conservation analysis of the novel missense mutation. The USH2A p.P1684L mutation occurs at an evolutionarily conserved amino acid (in red box).