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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1016/0022-4405(72)90012-x

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1432-1203

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Mutations in the WFS1 gene that cause lowfrequenc

Authors: Kim Cryns Markus Pfister Ronald J Pennings Steven J Bom Kris Flothmann Goele Caethoven Hannie Kremer Isabelle Schatteman Karen A Köln Tímea Tóth Susan Kupka Nikolaus Blin Peter Nürnberg Holger Thiele Paul H Heyning William Reardon Dafydd Stephens Cor W Cremers Richard J Smith Guy Camp
Publish Date: 2002/04/09
Volume: 110, Issue: 5, Pages: 389-394
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Abstract

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 lowfrequency sensorineural hearing impairment LFSNHI Mutations in this gene are known to be responsible for Wolfram syndrome or DIDMOAD diabetes insipidus diabetes mellitus optic atrophy and deafness which is an autosomal recessive trait We have identified seven missense mutations and a single amino acid deletion affecting conserved amino acids in six families and one sporadic case indicating that mutations in WFS1 are a major cause of inherited but not sporadic lowfrequency hearing impairment Among the ten WFS1 mutations reported in LFSNHI none is expected to lead to premature protein truncation and nine cluster in the Cterminal protein domain In contrast 64 of the Wolfram syndrome mutations are inactivating Our results indicate that only noninactivating mutations in WFS1 are responsible for nonsyndromic lowfrequency hearing impairment

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