Title
Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
Human molecular genetics
Publication type
article
Publication
New York, N.Y.,
Subject
Biology
Human medicine
Source (journal)
Journal of human genetics. - New York, N.Y.
Volume/pages
58(2013):2, p. 98-101
ISSN
1434-5161
ISI
000316612200009
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Hearing impairment (HI) is the decreased ability to hear and discriminate among sounds. It is one of the most common birth defects. Epidemiological data show that more than one child in 1000 is born with HI, whereas more than 50% of prelingual HI cases are found to be hereditary. So far, 95 published autosomal-recessive nonsyndromic HI (ARNSHI) loci have been mapped, and 41 ARNSHI genes have been identified. In this study, we performed a genome-wide linkage study in a consanguineous Tunisian family, and report the mapping of a novel ARNSHI locus DFNB80 to chromosome 2p16.1-p21 between the two single-nucleotide polymorphisms rs10191091 and rs2193485 with a maximum multipoint logarithm of odds score of 4.1. The screening of seven candidate genes, failed to reveal any disease-causing mutations.
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