Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13)

Citation
Wt. Mcguirt et al., Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13), NAT GENET, 23(4), 1999, pp. 413-419
Citations number
38
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
1061-4036 → ACNP
Volume
23
Issue
4
Year of publication
1999
Pages
413 - 419
Database
ISI
SICI code
1061-4036(199912)23:4<413:MICCNH>2.0.ZU;2-W
Abstract
We report that mutation of COL11A2 causes deafness previously mapped to the DFNA13 locus on chromosome 6p. We found two families (one American and one Dutch) with autosomal dominant, non-syndromic hearing loss to have mutatio ns in COL11A2 that are predicted to affect the triple-helix domain of the c ollagen protein. In both families, deafness is non-progressive and predomin antly affects middle frequencies. Mice with a targeted disruption of Col11a 2 also were shown to have hearing loss. Electron microscopy of the tectoria l membrane of these mice revealed loss of organization of the collagen fibr ils. Our findings revealed a unique ultrastructural malformation of inner-e ar architecture associated with non-syndromic hearing loss, and suggest tha t tectorial membrane abnormalities may be one aetiology of sensorineural he aring loss primarily affecting the mid-frequencies.