Literature DB >> 9150164

A gene for autosomal dominant nonsyndromic hearing loss (DFNA12) maps to chromosome 11q22-24.

K Verhoeven1, G Van Camp, P J Govaerts, W Balemans, I Schatteman, M Verstreken, L Van Laer, R J Smith, M R Brown, P H Van de Heyning, T Somers, F E Offeciers, P J Willems.   

Abstract

We performed linkage analysis in a Belgian family with autosomal dominant midfrequency hearing loss, which has a prelingual onset and a nonprogressive course in most patients. We found LOD scores >6 with markers on chromosome 11q. Analysis of key recombinants maps this deafness gene (DFNA12) to a 36-cM interval on chromosome 11q22-24, between markers D11S4120 and D11S912. The critical regions for the recessive deafness locus DFNB2 and the dominant locus DFNA11, which were previously localized to the long arm of chromosome 11, do not overlap with the candidate interval of DFNA12.

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Year:  1997        PMID： 9150164      PMCID： PMC1712440     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  18 in total

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Authors:  R J Smith; E C Lee; W J Kimberling; S P Daiger; M Z Pelias; B J Keats; M Jay; A Bird; W Reardon; M Guest
Journal:  Genomics       Date:  1992-12       Impact factor: 5.736

7.  Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.

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Authors:  V van Heyningen; P F Little
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  7 in total

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Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

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Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p.

Authors:  M R Brown; M S Tomek; L Van Laer; S Smith; J B Kenyon; G Van Camp; R J Smith
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

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Review 6.  Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

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7.  Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.

Authors:  Byung Yoon Choi; Jiwoong Kim; Juyong Chung; Ah Reum Kim; Sue Jean Mun; Seong Il Kang; Sang-Heon Lee; Namshin Kim; Seung-Ha Oh
Journal:  PLoS One       Date:  2014-05-09       Impact factor: 3.240
  7 in total

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