| Title |
|
|
|
Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21
| |
| Author |
|
|
|
| |
| 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. | | |
| Language |
|
|
|
English
| |
| Source (journal) |
|
|
|
Journal of human genetics. - New York, N.Y. | |
| Publication |
|
|
|
New York, N.Y. : 2013
| |
| ISSN |
|
|
|
1434-5161
| |
| Volume/pages |
|
|
|
58:2(2013), p. 98-101
| |
| ISI |
|
|
|
000316612200009
| |
| Full text (Publisher's DOI) |
|
|
| | |
|