[From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)]

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Publication year
2005Source
Nederlands Tijdschrift voor Geneeskunde, 149, 47, (2005), pp. 2619-21ISSN
Publication type
Article / Letter to editor

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Organization
Otorhinolaryngology
Journal title
Nederlands Tijdschrift voor Geneeskunde
Volume
vol. 149
Issue
iss. 47
Page start
p. 2619
Page end
p. 21
Subject
DCN 1: Perception and Action; DCN 2: Functional Neurogenomics; NCMLS 6: Genetics and epigenetic pathways of disease; UMCN 3.3: Neurosensory disordersAbstract
DFNA9 is an autosomal dominant genetic inner-ear hearing impairment that starts to show itself in the 3rd and 4th decades of life. This hearing impairment may be of a different degree of severity in each ear. Progression of hearing loss is about 3 dB/year. In about one in three patients severe vestibular symptoms similar to those in Meniere's disease are present as a result of a progressive impairment of the vestibular system. Several mutations were found in the COCH-gene on chromosome 14. There are indications that some of the mutations disrupt the folding of the cochlin protein, an important component of the extracellular matrix in the inner ear. DNA-diagnostics confirming the diagnosis ofDFNA9 are possible.
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- Academic publications [227902]
- Electronic publications [107427]
- Faculty of Medical Sciences [86234]
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