J Med Genet. 1997 Dec;34(12):1015-7.

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

Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, Parry G, Janjua AH, Newton V, al-Gazali L, Markham AF, Lench NJ, Mueller RF.

Source

Molecular Medicine Unit, St James's University Hospital, Leeds, UK.

Abstract

Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is genetically heterogeneous and it has been estimated that as many as 35 different loci may be involved. We report the mapping of a novel locus for autosomal recessive, non-syndromal deafness (DFNB16) in three consanguineous families originating from Pakistan and the Middle East. Using multipoint analysis (HOMOZ/MAPMAKER) a maximum combined lod score of 6.5 was obtained for the interval D15S1039-D15S123. Recombination events and haplotype analysis define a 12-14 cM critical region between the markers D15S1039 and D15S155 on chromosome 15q15-q21.

PMID:: 9429146; [PubMed - indexed for MEDLINE]
PMCID:: PMC1051155

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Research Support, Non-U.S. Gov't

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Wellcome Trust/United Kingdom

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Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175. [Hum Mol Genet. 1996]
Linkage studies of non-syndromic recessive deafness (NSRD) in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.
Brown KA, Janjua AH, Karbani G, Parry G, Noble A, Crockford G, Bishop DT, Newton VE, Markham AF, Mueller RF. Hum Mol Genet. 1996 Jan; 5(1):169-73.
DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter. [Eur J Hum Genet. 1999]
DFNB20: a novel locus for autosomal recessive, non-syndromal sensorineural hearing loss maps to chromosome 11q25-qter.
Moynihan L, Houseman M, Newton V, Mueller R, Lench N. Eur J Hum Genet. 1999 Feb-Mar; 7(2):243-6.
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Fukushima K, Ueki Y, Smith RJ. Adv Otorhinolaryngol. 2000; 56:152-7.
Review Hereditary deafness and phenotyping in humans. [Br Med Bull. 2002]
Review Hereditary deafness and phenotyping in humans.
Bitner-Glindzicz M. Br Med Bull. 2002; 63:73-94.

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Cited by 3 PubMed Central articles

Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment. [Am J Med Genet A. 2012]
Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment.
Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, et al. Am J Med Genet A. 2012 Feb; 158A(2):298-308. Epub 2011 Dec 6.
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. [Am J Hum Genet. 2006]
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.
Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M. Am J Hum Genet. 2006 Jan; 78(1):144-52. Epub 2005 Nov 21.
Impaired motor coordination in mice that lack punc. [Mol Cell Biol. 2001]
Impaired motor coordination in mice that lack punc.
Yang W, Li C, Mansour SL. Mol Cell Biol. 2001 Sep; 21(17):6031-43.

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A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (...
A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22.
J Med Genet. 1997 Dec ;34(12):1015-7.

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