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

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Direct exposure of the head to solar heat radiation impairs motor-cognitive performance

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Glycemic control and use of glucose-lowering medications in hospital-admitted type 2 diabetes patients over 80 years

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. CTLA-4 blockade boosts the expansion of tumor-reactive CD8+ tumor-infiltrating lymphocytes in ovarian cancer

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Distribution of risk alleles in patients with age-related macular degeneration

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Chromothripsis and DNA Repair Disorders

    Research output: Contribution to journalReviewResearchpeer-review

View graph of relations

Inherited retinal diseases (IRDs) are a common cause of visual impairment. IRD covers a set of genetically highly heterogeneous disorders with more than 150 genes associated with one or more clinical forms of IRD. Molecular genetic diagnosis has become increasingly important especially due to expanding number of gene therapy strategies under development. Next generation sequencing (NGS) of gene panels has proven a valuable diagnostic tool in IRD. We present the molecular findings of 677 individuals, residing in Denmark, with IRD and report 806 variants of which 187 are novel. We found that deletions and duplications spanning one or more exons can explain 3% of the cases, and thus copy number variation (CNV) analysis is important in molecular genetic diagnostics of IRD. Seven percent of the individuals have variants classified as pathogenic or likely-pathogenic in more than one gene. Possible Danish founder variants in EYS and RP1 are reported. A significant number of variants were classified as variants with unknown significance; reporting of these will hopefully contribute to the elucidation of the actual clinical consequence making the classification less troublesome in the future. In conclusion, this study underlines the relevance of performing targeted sequencing of IRD including CNV analysis as well as the importance of interaction with clinical diagnoses.

Original languageEnglish
JournalScientific Reports
Volume9
Issue number1
Pages (from-to)1219
ISSN2045-2322
DOIs
Publication statusPublished - 4 Feb 2019

ID: 58249720