A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa
We report on a novel deep intronic variant in <i>CLRN1</i> causing non-syndromic RP. The non-syndromic phenotype observed in this index case may be attributed to the leaky nature of this variant, which is causing some normal transcripts to be produced.
Authors
- Asodu Sandeep Sarma (ORCID: https://orcid.org/0000-0001-9960-9622)
- Samer Khateb (ORCID: https://orcid.org/0000-0002-8197-9403)
- Dror Sharon (ORCID: https://orcid.org/0000-0002-1789-5811)
- Eyal Banin (ORCID: https://orcid.org/0000-0002-6271-7811)
- Daan M. Panneman (ORCID: https://orcid.org/0000-0002-4384-505X)
- Susanne Roosing (ORCID: https://orcid.org/0000-0001-9038-0067)
- Maria Abu Elasal
- Frans P.M. Cremers
Institutions
- Radboud University Nijmegen (NL)
- Hebrew University of Jerusalem (IL)
- Hadassah Medical Center (IL)
- Radboud University Medical Center (NL)
Publication Details
- Journal
- Genes
- Published
- 2024-10-24
- DOI
- https://doi.org/10.3390/genes15111363
- Citations
- 2
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.47