A gene for congenital, recessive deafness DFNB3 ma...[Nat Genet. 1995]

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1: Nat Genet. 1995 Jan;9(1):86-91. Links

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

Friedman TB, Liang Y, Weber JL, Hinnant JT, Barber TD, Winata S, Arhya IN, Asher JH Jr.

Graduate Program in Genetics, Michigan State University, East Lansing 48824-1115.

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.

PMID: 7704031 [PubMed - indexed for MEDLINE]

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.
Am J Hum Genet. 1998 Apr; 62(4):904-15.

[Am J Hum Genet. 1998]
Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.
J Med Genet. 1995 May; 32(5):336-43.

[J Med Genet. 1995]
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
Science. 1998 May 29; 280(5368):1447-51.

[Science. 1998]
ReviewDFNB3 families and Shaker-2 mice: mutations in an unconventional myosin, myo 15.
Adv Otorhinolaryngol. 2000; 56:131-44.

[Adv Otorhinolaryngol. 2000]
ReviewRefined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.
Adv Otorhinolaryngol. 2000; 56:158-63.

[Adv Otorhinolaryngol. 2000]
» See reviews... | » See all...

Cited by 17 PubMed Central articles

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.
Arnos KS, Welch KO, Tekin M, Norris VW, Blanton SH, Pandya A, Nance WE. Am J Hum Genet. 2008 Aug; 83(2):200-7. Epub 2008 Jul 24.

[Am J Hum Genet. 2008]
ReviewRelevance of connexin deafness (DFNB1) to human evolution.
Nance WE, Kearsey MJ. Am J Hum Genet. 2004 Jun; 74(6):1081-7. Epub 2004 Apr 9.

[Am J Hum Genet. 2004]
Myosin XVA expression in the pituitary and in other neuroendocrine tissues and tumors.
Lloyd RV, Vidal S, Jin L, Zhang S, Kovacs K, Horvath E, Scheithauer BW, Boger ET, Fridell RA, Friedman TB. Am J Pathol. 2001 Oct; 159(4):1375-82.

[Am J Pathol. 2001]
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Cited by 17 PubMed Central articles

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