Pedigrees of families with TMC1 mutations. (a) TMC1 p.R604X and p.S647P were discovered by targeted capture and MPS. TMC1 p.R389X and p.W404R were subsequently identified in probands heterozygous for one of the first two alleles. Segregation of alleles with hearing loss is indicated by wild-type (N) and deafness-associated variants (V). The black arrow indicates the proband in each family. (b) Sanger sequences of each variant for representative homozygous or heterozygous individuals. The red arrow indicates the mutation.