Mutations in the SLC26A4 gene cause nonsyndromic recessive deafness (DFNB4, OMIM 600791) and Pendred syndrome (PDS, OMIM 274600), which combines sensorineural HL and the enlargement of the thyroid glands (goiter). This evidence concerns the gene SLC26A4 and autosomal recessive nonsyndromic hearing loss 4.