Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
Human genetics - 1 May 2002
Cryns Kim, Pfister Markus, Pennings Ronald J E, Bom Steven J H, Flothmann Kris, Caethoven Goele, Kremer Hannie, Schatteman Isabelle, Köln Karen A, Tóth Tímea, Kupka Susan, Blin Nikolaus, Nürnberg Peter, Thiele Holger, van de Heyning Paul H, Reardon William, Stephens Dafydd, Cremers Cor W R J, Smith Richard J H, Van Camp Guy
Abstract excerpt
Hereditary hearing impairment is an extremely heterogeneous trait, with more than 70 identified loci. Only two of these loci are associated with an auditory phenotype that predominantly affects the low frequencies (DFNA1 and DFNA6/14). In this study, we have completed mutation screening of the WFS1 gene in eight autosomal dominant families and twelve sporadic cases in which affected persons have low-frequency...
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