Analysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous <i>CTNND1</i> mutations in FEVR
By performing bespoke reanalysis of the FEVR GEL cohort, this study has highlighted additional heterozygous variants in <i>CTNND1</i> in FEVR cases and increased the diagnostic yield from 20% solved by the GEL analysis pipeline to 37% (22/59), but the majority of FEVR cases remain without a molecular diagnosis.
Authors
- Angelos Kalitzeos
- Carmel Toomes (ORCID: https://orcid.org/0000-0001-8373-9545)
- Chris F. Inglehearn (ORCID: https://orcid.org/0000-0002-5143-2562)
- Michel Michaelides (ORCID: https://orcid.org/0000-0002-1552-7046)
- Emma Clement (ORCID: https://orcid.org/0000-0002-5562-6276)
- James A. Poulter (ORCID: https://orcid.org/0000-0003-2048-5693)
- Robert Henderson (ORCID: https://orcid.org/0000-0002-5250-6404)
- Eibhlin McLoone
- Dong Sun (ORCID: https://orcid.org/0009-0008-1787-8019)
- Genevieve Wright
Institutions
- University of Leeds (GB)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Ulster (GB)
- Great Ormond Street Hospital (GB)
- Royal Victoria Hospital (GB)
- Moorfields Eye Hospital (GB)
- University College London (GB)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-12-18
- DOI
- https://doi.org/10.1136/jmg-2025-111083
- Primary Topic
- Wnt/β-catenin signaling in development and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Leeds
- China Scholarship Council
- Medical Research Council