The TMC1 c.1333C>T (p.Arg445Cys) variant has been reported in three studies and is found in four individuals in a homozygous state, including three affected siblings from a consanguineous family, and in one proband in a compound heterozygous state (Sirmaci et al. 2009; Ganapathy et al. 2014; Gao et al. 2016)..