RGD Reference Report - Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. - Rat Genome Database

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Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Authors: Verhoeven, K  Van Laer, L  Kirschhofer, K  Legan, PK  Hughes, DC  Schatteman, I  Verstreken, M  Van Hauwe, P  Coucke, P  Chen, A  Smith, RJ  Somers, T  Offeciers, FE  Van de Heyning, P  Richardson, GP  Wachtler, F  Kimberling, WJ  Willems, PJ  Govaerts, PJ  Van Camp, G 
Citation: Verhoeven K, etal., Nat Genet. 1998 May;19(1):60-2.
RGD ID: 1599380
Pubmed: PMID:9590290   (View Abstract at PubMed)
DOI: DOI:10.1038/ng0598-60   (Journal Full-text)

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. 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11q (ref. 3), where linkage was found in two families, one Belgian (DFNA12; ref. 4) and the other, Austrian (DFNA8; unpublished data), with autosomal dominant non-syndromic hearing impairment.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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sensorineural hearing loss  IAGP 1599380autosomal dominant nonsyndromic sensorineural deafness DFNA12 more ...RGD 
sensorineural hearing loss  ISOTECTA (Homo sapiens)1599380; 1599380autosomal dominant nonsyndromic sensorineural deafness DFNA12 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tecta  (tectorin alpha)

Genes (Mus musculus)
Tecta  (tectorin alpha)

Genes (Homo sapiens)
TECTA  (tectorin alpha)


Additional Information