Literature DB >> 7704031

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

T B Friedman1, Y Liang, J L Weber, J T Hinnant, T D Barber, S Winata, I N Arhya, J H Asher.   

Abstract

Two percent of the residents of Bengkala, Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at the DFNB3 locus. We have employed a direct genome-wide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and an analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. DFNB3 maps to chromosome 17, closest to D17S261, pRM7-GT and D17S805. In individuals homozygous for DFNB3, historical recombinant genotypes for the flanking markers, D17S122 and D17S783, place DFNB3 in a 5.3 cM interval of the pericentromeric region of chromosome 17 on a refined linkage map of 17p-17q12. Based on conserved synteny, the murine sh2 gene may be the homologue of DFNB3.

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Year:  1995        PMID： 7704031     DOI： 10.1038/ng0195-86

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  58 in total

1.  Linkage-disequilibrium mapping of disease genes by reconstruction of ancestral haplotypes in founder populations.

Authors:  S K Service; D W Lang; N B Freimer; L A Sandkuijl
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

2.  Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

Authors:  E Serra; S Puig; D Otero; A Gaona; H Kruyer; E Ars; X Estivill; C Lázaro
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

3.  Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Authors:  B Bonné-Tamir; A L DeStefano; C E Briggs; R Adair; B Franklyn; S Weiss; M Korostishevsky; M Frydman; C T Baldwin; L A Farrer
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

4.  Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32.

Authors:  L Warnich; P N Meissner; R J Hift; J H Louw; C J van Heerden; A E Retief
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

5.  Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage.

Authors:  E Gausden; B Coyle; J A Armour; R Coffey; A Grossman; G R Fraser; R M Winter; M E Pembrey; P Kendall-Taylor; D Stephens; L M Luxon; P D Phelps; W Reardon; R Trembath
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

Review 6.  Nonsyndromic hearing impairment: unparalleled heterogeneity.

Authors:  G Van Camp; P J Willems; R J Smith
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

7.  Genetic causes of moderate to severe hearing loss point to modifiers.

Authors:  Sadaf Naz; Ayesha Imtiaz; Ghulam Mujtaba; Azra Maqsood; Rasheeda Bashir; Ihtisham Bukhari; Muhammad R Khan; Memoona Ramzan; Amara Fatima; Atteeq U Rehman; Muddassar Iqbal; Taimur Chaudhry; Merete Lund; Carmen C Brewer; Robert J Morell; Thomas B Friedman
Journal:  Clin Genet       Date:  2016-10-06       Impact factor: 4.438

8.  Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

Authors:  S Winata; I N Arhya; S Moeljopawiro; J T Hinnant; Y Liang; T B Friedman; J H Asher
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 9.  Relevance of connexin deafness (DFNB1) to human evolution.

Authors:  Walter E Nance; Michael J Kearsey
Journal:  Am J Hum Genet       Date:  2004-04-09       Impact factor: 11.025

10.  Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University.

Authors:  Susan H Blanton; Walter E Nance; Virginia W Norris; Katherine O Welch; Amber Burt; Arti Pandya; Kathleen S Arnos
Journal:  Ann Hum Genet       Date:  2009-11-20       Impact factor: 1.670
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