Literature DB >> 10424813

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.

G Van Camp1, H Kunst, K Flothmann, W McGuirt, J Wauters, H Marres, M Verstreken, I N Bespalova, M Burmeister, P H Van de Heyning, R J Smith, P J Willems, C W Cremers, M M Lesperance.   

Abstract

Non-syndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 reported gene localisations. We have identified a large Dutch family with autosomal dominant non-syndromic sensorineural hearing impairment. In most patients, the onset of hearing impairment is in the first or second decade of life, with a slow decline in the following decades, which stops short of profound deafness. The hearing loss is bilateral, symmetrical, and only affects low and mid frequencies up to 2000 Hz. In view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we investigated linkage to the DFNA6 region. Lod score calculations confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14.

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Mesh：

Year:  1999        PMID： 10424813      PMCID： PMC1734405     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

1.  Increased recombination adjacent to the Huntington disease-linked D4S10 marker.

Authors:  B A Allitto; M E MacDonald; M Bucan; J Richards; D Romano; W L Whaley; B Falcone; J Ianazzi; N S Wexler; J J Wasmuth
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

2.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

3.  Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

Authors:  T R Prezant; J V Agapian; M C Bohlman; X Bu; S Oztas; W Q Qiu; K S Arnos; G A Cortopassi; L Jaber; J I Rotter
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

4.  Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

Authors:  P Coucke; G Van Camp; B Djoyodiharjo; S D Smith; R R Frants; G W Padberg; J K Darby; E H Huizing; C W Cremers; W J Kimberling
Journal:  N Engl J Med       Date:  1994-08-18       Impact factor: 91.245

5.  Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

Authors:  G van Camp; P Coucke; W Balemans; D van Velzen; C van de Bilt; L van Laer; R J Smith; K Fukushima; G W Padberg; R R Frants
Journal:  Hum Mol Genet       Date:  1995-11       Impact factor: 6.150

6.  A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

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

7.  A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Authors:  F M Reid; G A Vernham; H T Jacobs
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

8.  Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Authors:  T Mochizuki; H H Lemmink; M Mariyama; C Antignac; M C Gubler; Y Pirson; C Verellen-Dumoulin; B Chan; C H Schröder; H J Smeets
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

9.  A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

Authors:  H Chaïb; G Lina-Granade; P Guilford; H Plauchu; J Levilliers; A Morgon; C Petit
Journal:  Hum Mol Genet       Date:  1994-12       Impact factor: 6.150

10.  Genetic absolute dating based on microsatellites and the origin of modern humans.

Authors:  D B Goldstein; A Ruiz Linares; L L Cavalli-Sforza; M W Feldman
Journal:  Proc Natl Acad Sci U S A       Date:  1995-07-18       Impact factor: 11.205
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  4 in total

1.  Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Authors:  I N Bespalova; G Van Camp; S J Bom; D J Brown; K Cryns; A T DeWan; A E Erson; K Flothmann; H P Kunst; P Kurnool; T A Sivakumaran; C W Cremers; S M Leal; M Burmeister; M M Lesperance
Journal:  Hum Mol Genet       Date:  2001-10-15       Impact factor: 6.150

2.  Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

Authors:  H Eiberg; L Hansen; B Kjer; T Hansen; O Pedersen; M Bille; T Rosenberg; L Tranebjaerg
Journal:  J Med Genet       Date:  2006-05       Impact factor: 6.318

3.  Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.

Authors:  Nicolas Gürtler; Yuil Kim; Anand Mhatre; Christoph Schlegel; Adolf Mathis; Robert Daniels; Clough Shelton; Anil K Lalwani
Journal:  J Mol Med (Berl)       Date:  2005-05-24       Impact factor: 4.599

4.  Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

Authors:  Hye Ji Choi; Joon Suk Lee; Seyoung Yu; Do Hyeon Cha; Heon Yung Gee; Jae Young Choi; Jong Dae Lee; Jinsei Jung
Journal:  BMC Med Genet       Date:  2017-12-19       Impact factor: 2.103
  4 in total

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