Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population

Figure 1

Pedigree, haplotype analysis, audiogram, and mutational analysis of families with TMPRSS3 mutations. (A) Affected subjects are denoted in black. The proband is indicated by an arrow. Haplotype analysis in six families with the recurrent mutation TMPRSS3 p.Ala306Thr. Haplotypes are shown with the linked haplotype in boxes. A recombination event between p.Ala306Thr and D21S1225 was observed in four families while recombination event between p.Ala306Thr and D21S1411 was observed in two families. (B) DNA sequencing profile. (C) Audiograms of the affected subjects. Hearing loss appears to be progressive (red, right ear; blue, left ear).