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Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I
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2008 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 29, no 6, E37-E46 p.Article in journal (Refereed) Published
Abstract [en]

Mutations in the human gene encoding cadherin 23 (CDH23) cause Usher syndrome type 1D (USH1D) and nonsyndromic hearing loss. Individuals with Usher syndrome type I have profound congenital deafness, vestibular areflexia and usually begin to exhibit signs of RP in early adolescence. In the present study, we carried out the mutation analysis in all 69 exons of the CDH23 gene in 56 Usher type 1 probands already screened for mutations in MYO7A. A total of 18 of 56 subjects (32.1%) were observed to have one or two CDH23 variants that are presumed to be pathologic. Twenty one different pathologic genome variants were observed of which 15 were novel. Out of a total of 112 alleles, 31 (27.7%) were considered pathologic. Based on our results it is estimated that about 20% of patients with Usher syndrome type I have CDH23 mutations.

Place, publisher, year, edition, pages
New York, N.Y.: Wiley-Liss , 2008. Vol. 29, no 6, E37-E46 p.
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:oru:diva-10415DOI: 10.1002/humu.20761OAI: oai:DiVA.org:oru-10415DiVA: diva2:311232
Available from: 2010-04-20 Created: 2010-04-20 Last updated: 2016-12-16Bibliographically approved

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Möller, Claes
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