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Audiometric Characterization of a Family with Digenic Autosomal, Dominant, Progressive Sensorineural Hearing Loss
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
2000 (English)In: Acta Oto-Laryngologica, ISSN 0001-6489, Vol. 120, no 1, 51-57 p.Article in journal (Refereed) Published
Abstract [en]

In this study, a non-syndromic progressive bilateral high frequency hearing loss is described in a family with 141 identified members. Recent genetic analyses indicated a digenic inheritance with linkage to the gene loci DFNA2 and DFNA12. The affected family members who shared haplotypes at both loci (type I) showed an early postlingual onset and a more rapid rate of progress compared with those with one either of the two disease associated haplotypes (type II). The audiometric pattern was cochlear without a vestibular involvement. Auditory brainstem response audiometry and magnetic resonance imaging indicated normal retrocochlear features. The otoacoustic emissions were affected for both type I and type II, whereas the acoustic stapedius reflex thresholds were normal in most cases. It is concluded that both types had an outer hair cell/micro-mechanical abnormality, but that the DFNA 2 type might have an additional dysfunction at the level of the inner hair cells. It is furthermore pointed out that the application of refined audiometric techniques as well as a further development of new techniques is needed in order to characterize the phenotypes of the rapidly expanding number of genetically defined inner ear abnormalities.

Place, publisher, year, edition, pages
2000. Vol. 120, no 1, 51-57 p.
Keyword [en]
Acoustic, Reflex, Audiometry, Hereditary, Hearing Loss, Otoacoustic, Emissions
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-51493DOI: 10.1080/000164800453946PubMedID: 10779186OAI: oai:DiVA.org:uu-51493DiVA: diva2:79402
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2009-09-18Bibliographically approved

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