Literature DB >> 8817348

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

H Chaib1, C Place, N Salem, C Dodé, S Chardenoux, J Weissenbach, E el Zir, J Loiselet, C Petit.   

Abstract

We report here, the localization of a new recessive non-syndromal deafness gene (DFNB12) to 10q21-22 by linkage analysis, of a Sunni family. Affected individuals suffer from congenital profound sensorineural hearing loss. A maximum LOD score of 6.40 (theta = 0.00) was obtained with locus D10S535. Analysis of patients carrying recombinations mapped the gene distal to D10S529 and proximal to D10S532, delineating an interval between 11 and 15 cM. Three deaf mouse mutants Jackson circler (jc), Waltzer (v) and Ames waltzer (av) have been localized to the homologous murine region on chromosome 10. Each of these mouse mutants is a candidate mouse model for the DFNB12-associated hearing impairment.

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Year:  1996        PMID： 8817348     DOI： 10.1093/hmg/5.7.1061

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  12 in total

1.  Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

Authors:  J M Bork; L M Peters; S Riazuddin; S L Bernstein; Z M Ahmed; S L Ness; R Polomeno; A Ramesh; M Schloss; C R Srisailpathy; S Wayne; S Bellman; D Desmukh; Z Ahmed; S N Khan; V M Kaloustian; X C Li; A Lalwani; S Riazuddin; M Bitner-Glindzicz; W E Nance; X Z Liu; G Wistow; R J Smith; A J Griffith; E R Wilcox; T B Friedman; R J Morell
Journal:  Am J Hum Genet       Date:  2000-11-21       Impact factor: 11.025

2.  A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.

Authors:  Ghunwa Nakouzi; Khalil Kreidieh; Soha Yazbek
Journal:  J Community Genet       Date:  2014-09-27

3.  A new mouse insertional mutation that causes sensorineural deafness and vestibular defects.

Authors:  K N Alagramam; H Y Kwon; N L Cacheiro; L Stubbs; C G Wright; L C Erway; R P Woychik
Journal:  Genetics       Date:  1999-08       Impact factor: 4.562

4.  Hearing loss associated with the modifier of deaf waddler (mdfw) locus corresponds with age-related hearing loss in 12 inbred strains of mice.

Authors:  Q Y Zheng; K R Johnson
Journal:  Hear Res       Date:  2001-04       Impact factor: 3.208

5.  A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.

Authors:  K R Johnson; Q Y Zheng; Y Bykhovskaya; O Spirina; N Fischel-Ghodsian
Journal:  Nat Genet       Date:  2001-02       Impact factor: 38.330

6.  A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.

Authors:  D A Campbell; D P McHale; K A Brown; L M Moynihan; M Houseman; G Karbani; G Parry; A H Janjua; V Newton; L al-Gazali; A F Markham; N J Lench; R F Mueller
Journal:  J Med Genet       Date:  1997-12       Impact factor: 6.318

7.  CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

Authors:  L M Astuto; J M Bork; M D Weston; J W Askew; R R Fields; D J Orten; S J Ohliger; S Riazuddin; R J Morell; S Khan; S Riazuddin; H Kremer; P van Hauwe; C G Moller; C W R J Cremers; C Ayuso; J R Heckenlively; K Rohrschneider; U Spandau; J Greenberg; R Ramesar; W Reardon; P Bitoun; J Millan; R Legge; T B Friedman; W J Kimberling
Journal:  Am J Hum Genet       Date:  2002-06-19       Impact factor: 11.025

8.  Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Authors:  A Oshima; T Jaijo; E Aller; J M Millan; C Carney; S Usami; C Moller; W J Kimberling
Journal:  Hum Mutat       Date:  2008-06       Impact factor: 4.878

Review 9.  Autosomal recessive nonsyndromic deafness genes: a review.

Authors:  Duygu Duman; Mustafa Tekin
Journal:  Front Biosci (Landmark Ed)       Date:  2012-06-01

Review 10.  Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

Authors:  Anushree Acharya; Isabelle Schrauwen; Suzanne M Leal
Journal:  Hum Genet       Date:  2021-07-22       Impact factor: 4.132
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