A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene
Beyond variant detection, the assay elucidates how these variants influence RNA transcription and contribute to pathogenic mechanisms. An insight that is often overlooked by DNA sequencing approaches. This allowed us to identify distinct effects of each identified variant and recognize RNA slippage as a novel disease mechanism that has not been reported before in MFS. The developed assay introduces an improved approach to the clinical genetic testing of MFS, with potential applicability for diagnosing other conditions involving large, multi-exon genes.
Authors
- Muna Al Saffar (ORCID: https://orcid.org/0000-0003-0733-6503)
- Lara Alzyoud (ORCID: https://orcid.org/0000-0001-9307-3644)
- Nadia Akawi (ORCID: https://orcid.org/0000-0001-6311-7028)
- Mohamed Sulaiman (ORCID: https://orcid.org/0000-0001-5370-8561)
- Aleem Mohamed
- Youssef M. Shalaby (ORCID: https://orcid.org/0000-0002-8181-6997)
- Bashar Al-Zohily
- Bassam R. Ali (ORCID: https://orcid.org/0000-0003-1306-6618)
- Ghadeera Al Mansoori
- Aalia Batool
- Manal Irshaid
- Mohammed Abdoh
- Sara Aleissaee
Institutions
- Boston Children's Hospital (US)
- United Arab Emirates University (AE)
- University of Oxford (GB)
- Al Ain Hospital (AE)
- Sheikh Shakhbout Medical City (AE)
Publication Details
- Journal
- Frontiers in Molecular Biosciences
- Published
- 2025-11-03
- DOI
- https://doi.org/10.3389/fmolb.2025.1693943
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- United Arab Emirates University