[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment]
until further notice
SourceNederlands Tijdschrift voor Geneeskunde, 151, 9, (2007), pp. 531-534
Article / Letter to editor
Display more detailsDisplay less details
Nederlands Tijdschrift voor Geneeskunde
SubjectDCN 1: Perception and Action; DCN 2: Functional Neurogenomics; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 3.3: Neurosensory disorders; UMCN 5.1: Genetic defects of metabolism; UMCN 5.1: Genetic defects of metabolism
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.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.