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Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation
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2005 (English)In: International Journal of Audiology, ISSN 1499-2027, Vol. 44, no 5, 307-316 p.Article in journal (Refereed) Published
Abstract [en]

The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome.

Place, publisher, year, edition, pages
London: Taylor & Francis , 2005. Vol. 44, no 5, 307-316 p.
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-10357DOI: 10.1080/14992020500060610OAI: oai:DiVA.org:oru-10357DiVA: diva2:310223
Available from: 2010-04-13 Created: 2010-04-13 Last updated: 2016-12-16Bibliographically approved

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Möller, Claes
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Department of Clinical Medicine
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