Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy
This study adds to the mutational spectrum of splicing defects implicated in retinal degenerations by identifying and characterising two novel variants in <i>CHM</i> and <i>CACNA1F.</i> Our results highlight the importance of conducting functional analysis to investigate the consequences of intronic splice-altering variants and the significance of reclassifying VUS to confirm a genetic diagnosis.
Authors
- Emma Duignan (ORCID: https://orcid.org/0000-0002-3968-4855)
- Laura Whelan (ORCID: https://orcid.org/0000-0002-0537-4349)
- Laura K. Finnegan (ORCID: https://orcid.org/0000-0002-3395-1211)
- Jacqueline A. Turner (ORCID: https://orcid.org/0000-0002-6638-1956)
- Ciara Shortall
- Paul F. Kenna (ORCID: https://orcid.org/0000-0002-3964-4167)
- David Keegan (ORCID: https://orcid.org/0000-0002-8620-9563)
- Sophia Millington‐Ward (ORCID: https://orcid.org/0000-0001-7470-0702)
- Adrian Dockery (ORCID: https://orcid.org/0000-0002-3423-2542)
- Naomi Chadderton (ORCID: https://orcid.org/0000-0002-1684-1598)
- Emma Matthews (ORCID: https://orcid.org/0000-0002-3810-306X)
- Ella Kopčić (ORCID: https://orcid.org/0000-0002-3977-851X)
- Giuliana Silvestri (ORCID: https://orcid.org/0000-0001-5662-5374)
- G. Jane Farrar
- R. de Long
- Claire Kirk
- Anna R. Ridgeway (ORCID: https://orcid.org/0009-0005-3533-3395)
Institutions
- Trinity College Dublin (IE)
- Royal Victoria Eye and Ear Hospital (IE)
- Mater Misericordiae University Hospital (IE)
- Royal Victoria Hospital (GB)
Publication Details
- Journal
- Genes
- Published
- 2024-12-27
- DOI
- https://doi.org/10.3390/genes16010025
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Health Research Charities Ireland
- Science Foundation Ireland
- Irish Research Council