Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Germline whole genome sequencing in pediatric oncology in Denmark-Practitioner perspectives

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension

    Research output: Contribution to journalReviewResearchpeer-review

  3. Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Research output: Other contributionCommunication

  2. DOORS syndrome and a recurrent truncating ATP6V1B2 variant

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Crosstalk of Hedgehog and mTORC1 Pathways

    Research output: Contribution to journalReviewResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalMolecular Genetics & Genomic Medicine
Volume4
Issue number5
Pages (from-to)527-539
Number of pages13
ISSN2324-9269
DOIs
Publication statusPublished - Sep 2016

ID: 49586733