Abnormal Splicing in the Final Intron of <i>PRX</i> Results in Dominant Congenital Cataract Without Neurological Phenotype
Splicing defects leading to the replacement of L-PRX by S-PRX and/or the presence of an aberrant L-PRX exert a significant negative effect on lens development, possibly through a gain-of-function or dominant-negative mechanism distinct from the one implicated in recessive neurological phenotypes.
Authors
- Elena V. Semina (ORCID: https://orcid.org/0000-0003-0531-3586)
- Neringa Jurkutė (ORCID: https://orcid.org/0000-0002-3092-7451)
- Salmo Raskin (ORCID: https://orcid.org/0000-0002-7191-0592)
- Gavin Arno
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Fabiana Louise Motta (ORCID: https://orcid.org/0000-0003-2230-995X)
- Linda M. Reis (ORCID: https://orcid.org/0000-0002-5098-6336)
- Mariya Moosajee (ORCID: https://orcid.org/0000-0003-1688-5360)
- Fabiana Ramos (ORCID: https://orcid.org/0000-0001-7780-9762)
- James G. Bellingham (ORCID: https://orcid.org/0000-0002-7483-4054)
Institutions
- Children's Hospital of Wisconsin (US)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University College London Hospitals NHS Foundation Trust (GB)
- Medical College of Wisconsin (US)
- The Francis Crick Institute (GB)
- Hospitais da Universidade de Coimbra (PT)
- Escola Superior de Tecnologia da Saúde de Coimbra (PT)
- Greenwood Genetic Center (US)
- Moorfields Eye Hospital (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
- Universidade Federal do Paraná (BR)
- Universidade Federal de São Paulo (BR)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-11-13
- DOI
- https://doi.org/10.1167/iovs.66.14.28
- Primary Topic
- Connexins and lens biology
- 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
- Moorfields Eye Hospital NHS Foundation Trust
- Moorfields Eye Charity
- National Institutes of Health
- Medical Research Council
- NIHR Sheffield Biomedical Research Centre