Article
A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Feb 2017
Wolf Axel, Frohne Alexandra, Allen Matthew, Parzefall Thomas, Koenighofer Martin, Schreiner Markus M, Schoefer Christian, Frei Klemens, Lucas Trevor
Abstract excerpt
BACKGROUND: Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic sensorineural hearing impairment (HI) implying the involvement of additional genetic factors. Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type...
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