Literature DB >> 19183916

[A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter].

D Bönsch1, C-M Schmidt, P Scheer, J Bohlender, C Neumann, A Am Zehnhoff-Dinnesen, T Deufel.   

Abstract

By investigation of a German family pedigree with non-syndromic hearing impairment of early onset and autosomal-dominant mode of inheritance, linkage to known DFNA loci was excluded, and the existence of a new locus (DFNA33) was revealed. In a subsequent genomic scan the phenotype was mapped to a 6 cM interval on chromosome 13q34-qter. A maximum two-point lod score of 2.96 was obtained for the marker D13S285 with a maximum lod score in the multipoint analysis of 3.28 at 124.56 cM.

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Year:  2009        PMID： 19183916     DOI： 10.1007/s00106-008-1832-9

Source DB:  PubMed          Journal:  HNO        ISSN： 0017-6192            Impact factor:   1.284


  19 in total

1.  PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype.

Authors:  D Bönsch; C Neumann; R Lang-Roth; O Witte; A Lamprecht-Dinnesen; T Deufel
Journal:  Clin Genet       Date:  2003-01       Impact factor: 4.438

Review 2.  Genetic epidemiology of hearing impairment.

Authors:  N E Morton
Journal:  Ann N Y Acad Sci       Date:  1991       Impact factor: 5.691

3.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

4.  Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Authors:  S Wayne; N G Robertson; F DeClau; N Chen; K Verhoeven; S Prasad; L Tranebjärg; C C Morton; A F Ryan; G Van Camp; R J Smith
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

5.  Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

Authors:  W T McGuirt; S D Prasad; A J Griffith; H P Kunst; G E Green; K B Shpargel; C Runge; C Huybrechts; R F Mueller; E Lynch; M C King; H G Brunner; C W Cremers; M Takanosu; S W Li; M Arita; R Mayne; D J Prockop; G Van Camp; R J Smith
Journal:  Nat Genet       Date:  1999-12       Impact factor: 38.330

Review 6.  [Non-syndromic hereditary hearing impairment].

Authors:  R Birkenhäger; A Aschendorff; J Schipper; R Laszig
Journal:  Laryngorhinootologie       Date:  2007-04       Impact factor: 1.057

7.  Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans.

Authors:  O Vahava; R Morell; E D Lynch; S Weiss; M E Kagan; N Ahituv; J E Morrow; M K Lee; A B Skvorak; C C Morton; A Blumenfeld; M Frydman; T B Friedman; M C King; K B Avraham
Journal:  Science       Date:  1998-03-20       Impact factor: 47.728

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

9.  [A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15].

Authors:  D Bönsch; C M Schmidt; P Scheer; J Bohlender; C Neumann; A am Zehnhoff-Dinnesen; T Deufel
Journal:  HNO       Date:  2008-02       Impact factor: 1.284

10.  Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome.

Authors:  J Dubovsky; V C Sheffield; G M Duyk; J L Weber
Journal:  Hum Mol Genet       Date:  1995-03       Impact factor: 6.150
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  3 in total

1.  Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice.

Authors:  Yoshifumi Matsumoto; Kei-ichi Katayama; Takehito Okamoto; Kazuyuki Yamada; Noriko Takashima; Soichi Nagao; Jun Aruga
Journal:  PLoS One       Date:  2011-01-26       Impact factor: 3.240

Review 2.  Genetics of Tinnitus: Still in its Infancy.

Authors:  Barbara Vona; Indrajit Nanda; Wafaa Shehata-Dieler; Thomas Haaf
Journal:  Front Neurosci       Date:  2017-05-08       Impact factor: 4.677

3.  Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

Authors:  Susan G Stanton; Terry-Lynn Young; Justin A Pater; Cindy Penney; Darren D O'Rielly; Anne Griffin; Lara Kamal; Zippora Brownstein; Barbara Vona; Chana Vinkler; Mordechai Shohat; Ortal Barel; Curtis R French; Sushma Singh; Salem Werdyani; Taylor Burt; Nelly Abdelfatah; Jim Houston; Lance P Doucette; Jessica Squires; Fabian Glaser; Nicole M Roslin; Daniel Vincent; Pascale Marquis; Geoffrey Woodland; Touati Benoukraf; Alexia Hawkey-Noble; Karen B Avraham
Journal:  Hum Genet       Date:  2022-03-12       Impact factor: 5.881
  3 in total

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