BACKGROUND: Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-thirds of all cases being nonsyndromic. Only two loci (DFNA1 and DFNA6/14/38) are associated with low frequency sensorineural nonsyndromic hearing impairment. DFNA6 was mapped to chromosome 4p16. Recessive mutations in the WFS1 gene are responsible for Wolfram syndrome; missense mutations inherited as an autosomal dominant result in low frequency sensorineural hearing impairment (LFSNHI). PATIENTS AND METHODS: In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons. RESULTS AND CONCLUSION: In general, these patients show a postlingual, sensorineural, bilateral, symmetric, nonsyndromic low frequency hearing impairment with a slow progression. This impairment is accompanied by normal vision and normal vestibular responses.
BACKGROUND:Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-thirds of all cases being nonsyndromic. Only two loci (DFNA1 and DFNA6/14/38) are associated with low frequency sensorineural nonsyndromic hearing impairment. DFNA6 was mapped to chromosome 4p16. Recessive mutations in the WFS1 gene are responsible for Wolfram syndrome; missense mutations inherited as an autosomal dominant result in low frequency sensorineural hearing impairment (LFSNHI). PATIENTS AND METHODS: In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons. RESULTS AND CONCLUSION: In general, these patients show a postlingual, sensorineural, bilateral, symmetric, nonsyndromic low frequency hearing impairment with a slow progression. This impairment is accompanied by normal vision and normal vestibular responses.
Authors: H Inoue; Y Tanizawa; J Wasson; P Behn; K Kalidas; E Bernal-Mizrachi; M Mueckler; H Marshall; H Donis-Keller; P Crock; D Rogers; M Mikuni; H Kumashiro; K Higashi; G Sobue; Y Oka; M A Permutt Journal: Nat Genet Date: 1998-10 Impact factor: 38.330
Authors: Kim Cryns; Markus Pfister; Ronald J E Pennings; Steven J H Bom; Kris Flothmann; Goele Caethoven; Hannie Kremer; Isabelle Schatteman; Karen A Köln; Tímea Tóth; Susan Kupka; Nikolaus Blin; Peter Nürnberg; Holger Thiele; Paul H van de Heyning; William Reardon; Dafydd Stephens; Cor W R J Cremers; Richard J H Smith; Guy Van Camp Journal: Hum Genet Date: 2002-04-09 Impact factor: 4.132
Authors: M M Lesperance; J W Hall; F H Bess; K Fukushima; P K Jain; B Ploplis; T B San Agustin; H Skarka; R J Smith; M Wills Journal: Hum Mol Genet Date: 1995-10 Impact factor: 6.150
Authors: T M Strom; K Hörtnagel; S Hofmann; F Gekeler; C Scharfe; W Rabl; K D Gerbitz; T Meitinger Journal: Hum Mol Genet Date: 1998-12 Impact factor: 6.150