Mutations of the SLC26A4 gene (OMIM *605646) are the second most frequent cause of autosomal recessive non-syndromic SNHL (Hilgert, Smith & Van Camp, 2009) and produce a phenotypic spectrum of hearing loss disorders encompassing both Pendred syndrome (PDS; OMIM #274600) and DFNB4 (OMIM #600791) (Everett et al., 1997; Li et al., 1998). Here, SLC26A4 is linked to Pendred syndrome.