Fig. 1

Pedigree and Sanger sequence analysis. a A pedigree showing five generations of a consanguineous family; rectangles indicate males, circles indicate females, Roman numerals represent generations, and Arabic numerals indicate the position of each individual in the family. Filled rectangles and circles, respectively, represent affected males and females; a horizontal line above a rectangle or circle shows that the subject was clinically examined (PTA and impedance testing or tympanometry); an asterisk above a symbol indicates that WES was performed; a slash (/) indicates a deceased person; the same line between two individuals represents consanguinity; +/+ represents homozygosity for the wild-type allele, represents ± heterozygosity, and −/− represents homozygosity for the mutant allele; an arrow indicates the proband. b Sanger sequencing of three subjects: an unaffected normal individual (IV-10), a heterozygous individual (IV-16) and an affected individual (IV-2). The arrow in the chromatogram shows the position of the splice-site variant (NM_194248:c.3289-1G>T)