Our strategy of molecular study of the SLC26A4 gene allowed the conclusion that biallelic pathogenic mutations in SLC26A4 explained ~ 3% of cases selected because of autosomal recessive deafness, and that monoallelic mutations were present in ~ 13% of cases of deafness with cochleovestibular malformations or suspected Pendred syndrome. This evidence concerns the gene SLC26A4 and hearing loss, autosomal recessive.