| Autor: |
Cremers CW; Universitair Medisch Centrum St Radboud, afd. Keel-, Neus- en Oorheelkunde, huispostnr. 911, Postbus 9101, 6500 HB Nijmegen. c.cremers@kno.umcn.nl, Plantinga RF, Kremer H |
| Jazyk: |
Dutch; Flemish |
| Zdroj: |
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2007 Mar 03; Vol. 151 (9), pp. 531-4. |
| Abstrakt: |
An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-frequency or mild-to-severe progressive high-frequency sensorineural hearing impairment. The causative gene, TECTA, encodes alpha-tectorin, the most important non-collagenous component of the tectorial membrane in the cochlea and the otolith membrane in the maculae of the vestibular system. Mutations in the zona pellucida domain of alpha-tectorin cause mid-frequency hearing impairment, whereas mutations in the zonadhesin domain cause progressive high-frequency hearing impairment. The intact hearing in the low and high frequencies may prohibit successful correction with a hearing aid. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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