Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

John H Greinwald; Sigrid Wayne; Achih H Chen; Daryl A Scott; Ross I.S Zbar; Michelle L Kraft; Sai Prasad; Arabandi Ramesh; Paul Coucke; C.R. Srikumari Srisailapathy; Michael Lovett; Guy Van Camp; Richard J.H Smith

doi:10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L

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Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

Journal article

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Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31

John H Greinwald, Sigrid Wayne, Achih H Chen, Daryl A Scott, Ross I.S Zbar, Michelle L Kraft, Sai Prasad, Arabandi Ramesh, Paul Coucke, C.R. Srikumari Srisailapathy, …

American journal of medical genetics, Vol.78(2), pp.107-113

06/30/1998

DOI: 10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L

PMID: 9674898

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Abstract

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of hereditary hearing impairment (HHI). To date, 16 different loci have been reported, making ARNSHL an extremely heterogeneous disorder. One of these loci, DFNB4, was mapped to a 5‐cM interval of 7q31 in a large Middle‐Eastern Druze family. This interval also includes the gene for Pendred syndrome. We report on three new families with HHI from the Madras region of southern India that demonstrate linkage to 7q. Their pedigrees are compatible with autosomal recessive inheritance. Furthermore, the largest family identifies a novel locus (DFNB17) telomeric to the DFNB4 and Pendred intervals. A 3‐cM region of homozygosity by descent between markers D7S486 and D7S2529 is present in all affected individuals in this family and generates a multipoint LOD score of 4.24. The two other families map to the previously reported DFNB4 region but have insufficient power to attain significant LOD scores. However, mutations in the Pendred syndrome gene are present in one of these families. Am. J. Med. Genet. 78:107–113, 1998. © 1998 Wiley‐Liss, Inc.

chromosome 7q31

linkage

nonsyndromic

DFNB17

deafness

Details

Title: Subtitle: Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31
Creators: John H Greinwald
Sigrid Wayne
Achih H Chen
Daryl A Scott
Ross I.S Zbar
Michelle L Kraft
Sai Prasad
Arabandi Ramesh
Paul Coucke
C.R. Srikumari Srisailapathy
Michael Lovett
Guy Van Camp
Richard J.H Smith
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.78(2), pp.107-113
DOI: 10.1002/(SICI)1096-8628(19980630)78:2<107::AID-AJMG2>3.0.CO;2-L
PMID: 9674898
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: John Wiley & Sons, Inc; New York
Number of pages: 7
Grant note: National Institutes of Health (R01DCO2842)
Language: English
Date published: 06/30/1998
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006431302771

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