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Usher syndrome: clinical findings and gene localization studies
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1989 (English)In: The Laryngoscope, ISSN 0023-852X, E-ISSN 1531-4995, Vol. 99, no 1, 66-72 p.Article in journal (Refereed) Published
Abstract [en]

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an indepth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.

Place, publisher, year, edition, pages
1989. Vol. 99, no 1, 66-72 p.
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-9903DOI: 10.1288/00005537-198901000-00013OAI: oai:DiVA.org:oru-9903DiVA: diva2:302166
Available from: 2010-03-04 Created: 2010-03-04 Last updated: 2016-12-16Bibliographically approved

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