ub.xmlui.mirage2.page-structure.muninLogoub.xmlui.mirage2.page-structure.openResearchArchiveLogo
    • EnglishEnglish
    • norsknorsk
  • Velg spraakEnglish 
    • EnglishEnglish
    • norsknorsk
  • Administration/UB
View Item 
  •   Home
  • Det helsevitenskapelige fakultet
  • Institutt for klinisk medisin
  • Artikler, rapporter og annet (klinisk medisin)
  • View Item
  •   Home
  • Det helsevitenskapelige fakultet
  • Institutt for klinisk medisin
  • Artikler, rapporter og annet (klinisk medisin)
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

Usher syndrome in Denmark: mutation Spectrum and some clinical observations

Permanent link
https://hdl.handle.net/10037/10328
DOI
https://doi.org/10.1002/mgg3.228
Thumbnail
View/Open
article.pdf (288.9Kb)
(PDF)
Date
2016-05-12
Type
Journal article
Tidsskriftartikkel
Peer reviewed

Author
Dad, Sheena; Dahl Rendtorff, Nanna; Tranebjærg, Lisbeth; Grønskov, Karen; Gasdal Karstensen, Helena; Brox, Vigdis; Nilssen, Øivind; Roux, Anne-Francoise; Rosenberg, Thomas; Jensen, Hanne; Birk Møller, Lisbeth
Abstract
Background:
Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.
Methods:
Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.
Results:
Before Next Generation Sequencing (NGS) became available mutations in nine individuals (1 USH1, 7 USH2, 1 USH3) were identified by Sanger sequencing of USH1C, USH2A or CLRN1 or by Arrayed Primer EXtension (APEX) method. Mutations in 12 individuals (7 USH1, 5 USH2) were found by targeted NGS of ten known USH genes. Five novel pathogenic variants were identified. We combined our data with previously published, and obtained an overview of the USH mutation spectrum in Denmark, including 100 unrelated individuals; 32 with USH1, 67 with USH2, and 1 with USH3. Macular edema was observed in 44 of 117 individuals. Olfactory function was tested in 12 individuals and found to be within normal range in all.
Conclusion:
Mutations that lead to USH1 were predominantly identified in MYO7A (75%), whereas all mutations in USH2 cases were identified in USH2A. The MYO7A mutation c.93C>A, p.(Cys31*) accounted for 33% of all USH1 mutations and the USH2A c.2299delG, p.(Glu767Serfs*21) variant accounted for 45% of all USH2 mutations in the Danish cohort.
Description
Source: doi:10.1002/mgg3.228
Publisher
Wiley Open Access
Citation
Dad, Dahl Rendtorff, Tranebjærg L, Grønskov K, Gasdal Karstensen, Brox V, Nilssen O, Ø, Roux, Rosenberg T, Jensen H, Birk Møller. Usher syndrome in Denmark: mutation Spectrum and some clinical observations. Molecular Genetics & Genomic Medicine. 2016;4(5):527-539
Metadata
Show full item record
Collections
  • Artikler, rapporter og annet (klinisk medisin) [1974]

Browse

Browse all of MuninCommunities & CollectionsAuthor listTitlesBy Issue DateBrowse this CollectionAuthor listTitlesBy Issue Date
Login

Statistics

View Usage Statistics
UiT

Munin is powered by DSpace

UiT The Arctic University of Norway
The University Library
uit.no/ub - munin@ub.uit.no

Accessibility statement (Norwegian only)