| | |  | | | | Record from Web of Science® | | | | | | |
| Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment |
|
|
| Author(s): Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJH, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WT, Willems PJ, Govaerts PJ, Van Camp G |
| Source: NATURE GENETICS Volume: 19 Issue: 1 Pages: 60-62 Published: MAY 1998 |
| Times Cited: 153 References: 20 |
| Abstract: The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. alpha-tectorin is one of the major non-collagenous components of the tectorial membrane(1,2). Recently, the gene encoding mouse alpha-tectorin (Tecta) was mapped to a region of mouse chromosome 9, which shows evolutionary conservation with human chromosome 11q (ref. 3), where linkage was found in two families, one Belgian (DFNA12; ref. 4) and the other, Austrian (DFNA8; unpublished data), with autosomal dominant non-syndromic hearing impairment. We determined the complete sequence and the intron-exon structure of the human TECTA gene. In both families, mutation analysis revealed missense mutations which replace conserved amino-acid residues within the zona pellucida domain of TECTA. These findings indicate that mutations in TECTA are responsible for hearing impairment in these families, and implicate a new type of protein in the pathogenesis of hearing impairment. |
| Document Type: Article |
| Language: English |
| Reprint Address: Van Camp, G (reprint author), Univ Instelling Antwerp, Dept Med Genet, Universiteitsplein 1, B-2610 Wilrijk, Belgium |
Addresses:
1. Univ Instelling Antwerp, Dept Med Genet, B-2610 Wilrijk, Belgium
2. Univ Instelling Antwerp, Dept Otorhinolaryngol, B-2610 Wilrijk, Belgium
3. Univ Hosp Vienna, Clin Otorhinol, A-1090 Vienna, Austria
4. Univ Sussex, Sch Biol Sci, Brighton BN1 9QG, E Sussex England
5. Univ Nottingham, MRC, Inst Hearing Res, Nottingham NG7 2RD, England
6. St Augustinus Hosp, Dept Otolaryngol, B-2610 Wilrijk, Belgium
7. Univ Iowa Hosp & Clin, Dept Otolaryngol, Iowa City, IA 52242 USA
8. Univ Vienna, Inst Histol & Embryol, A-1090 Vienna, Austria
9. Boys Town Natl Res Hosp, Omaha, NE 68131 USA |
| Publisher: NATURE AMERICA INC, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Genetics & Heredity |
| IDS Number: ZK651 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |