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dc.contributor.authorDad, Sheena
dc.contributor.authorDahl Rendtorff, Nanna
dc.contributor.authorTranebjærg, Lisbeth
dc.contributor.authorGrønskov, Karen
dc.contributor.authorGasdal Karstensen, Helena
dc.contributor.authorBrox, Vigdis
dc.contributor.authorNilssen, Øivind
dc.contributor.authorRoux, Anne-Francoise
dc.contributor.authorRosenberg, Thomas
dc.contributor.authorJensen, Hanne
dc.contributor.authorBirk Møller, Lisbeth
dc.date.accessioned2017-02-21T13:23:56Z
dc.date.available2017-02-21T13:23:56Z
dc.date.issued2016-05-12
dc.description.abstractBackground:<br> Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3.<br> Methods:<br> Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic methods.<br> Results:<br> 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.<br> Conclusion:<br> 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.en_US
dc.descriptionSource: <a href=http://dx.doi.org/10.1002/mgg3.228>doi:10.1002/mgg3.228</a>en_US
dc.identifier.citationDad, 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):527-539en_US
dc.identifier.cristinIDFRIDAID 1394369
dc.identifier.doi10.1002/mgg3.228
dc.identifier.issn2324-9269
dc.identifier.urihttps://hdl.handle.net/10037/10328
dc.language.isoengen_US
dc.publisherWiley Open Accessen_US
dc.relation.journalMolecular Genetics & Genomic Medicine
dc.rights.accessRightsopenAccessen_US
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750en_US
dc.subjectVDP::Medical disciplines: 700::Clinical medical disciplines: 750en_US
dc.titleUsher syndrome in Denmark: mutation Spectrum and some clinical observationsen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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