| | |  | | | | Record from Web of Science® | | | | | | |
| Molecular genetics of hearing loss |
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| Author(s): Petit C, Levilliers J, Hardelin JP |
| Source: ANNUAL REVIEW OF GENETICS Volume: 35 Pages: 589-646 Published: 2001 |
| Times Cited: 119 References: 377 |
| Abstract: Hereditary isolated heating loss is genetically highly heterogeneous. Over 100 genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 genes underlying 28 deafness forms have been identified. The present epistemic stage in the realm consists in a preliminary characterization of the encoded proteins and the associated defective biological processes. Since for several of the deafness forms we still only have fuzzy notions of their pathogenesis, we here adopt a presentation of the various deafness forms based on the site of the primary defect: hair cell defects, nonsensory cell defects, and tectorial membrane anomalies. The various deafness forms so far studied appear as monogenic disorders. They are all rare with the exception of one, caused by mutations in the gene encoding the gap junction protein connexin26, which accounts for between one third to one half of the cases of prelingual inherited deafness in Caucasian populations. |
| Document Type: Review |
| Language: English |
| Reprint Address: Petit, C (reprint author), Inst Pasteur, Unite Genet & Deficits Sensoriels, CNRS URA 1968, 25 Rue Dr Roux, F-75724 Paris 15, France |
Addresses:
1. Inst Pasteur, Unite Genet & Deficits Sensoriels, CNRS URA 1968, F-75724 Paris 15, France |
| Publisher: ANNUAL REVIEWS, 4139 EL CAMINO WAY, PO BOX 10139, PALO ALTO, CA 94303-0139 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: 506VB |
| ISSN: 0066-4197 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |