FIGURE 1.
The M016 pedigree presents autosomal dominant nonsyndromic sensorineural deafness. (A) A large pedigree with autosomal dominant nonsyndromic sensorineural deafness. ↗, Proband; M, Mutation allele; W, Wild‐type allele. Information for GSDME variant: NM_004403.3:exon8:c.1113_1114insGGGGTGCAGCTTACAGGGTGGGTGT:p.P372fs*36. (B) Pure‐tone audiograms of the proband (III:1). The audiograms present bilateral severe hearing loss across all frequencies at the age of 11 years. Red and blue lines indicate air and bone conduction, respectively. In air conduction, the right and left ears are indicated by “o” and “x”; in bone conduction, the right and left ears are indicated by “<” and “>”. “dB”, decibel.