Pedigrees and genotypes of family SH.
(a) Pedigrees of family SH. The individuals selected for linkage analysis and whole-exome sequencing was marked with asterisks and triangles, respectively. (b) Representative audiograms of family SH. (c) Logarithm of the odds (LOD) scores of genome-wide linkage analysis for chromosome 18. A maximum LOD score of 4.93 was obtained for marker rs928980. (d) Chromatograms of wild type (WT) and mutant (Mut) sequence for c.547C>G (p.L183V). (e) Diagram showing domains of human THOC1 protein and the location of the p.L183V mutation. (f) Multiple sequence alignment of THOC1 showing conservation of the leucine 183 residue.