Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Our findings indicate that noncanonical splice variants may account for approximately 3% of families with undiagnosed FTAAD, highlighting the importance of incorporating analysis of introns and confirmatory RNA testing into genetic testing for Marfan syndrome.
Authors
- Abhijit Dixit (ORCID: https://orcid.org/0000-0001-9240-0674)
- Yeşim Kesim (ORCID: https://orcid.org/0000-0003-4423-2367)
- Neil Thomas (ORCID: https://orcid.org/0000-0002-9089-1921)
- Ian Berry (ORCID: https://orcid.org/0000-0002-9710-4724)
- Jenny C. Taylor (ORCID: https://orcid.org/0000-0003-3602-5704)
- Ravi Tharakan (ORCID: https://orcid.org/0000-0001-5895-9271)
- Susan Walker (ORCID: https://orcid.org/0000-0002-5016-6426)
- Sarah Smithson (ORCID: https://orcid.org/0000-0002-5575-0357)
- Simon Holden (ORCID: https://orcid.org/0000-0002-9707-2320)
- Andrew R. Wood (ORCID: https://orcid.org/0000-0003-1726-948X)
- Suzanne Alsters (ORCID: https://orcid.org/0009-0002-6851-6671)
- Htoo A. Wai (ORCID: https://orcid.org/0000-0002-3560-6980)
- Déborah Morris-Rosendahl (ORCID: https://orcid.org/0000-0002-7780-4707)
- Ajoy Sarkar
- David J. Bunyan (ORCID: https://orcid.org/0000-0001-8686-558X)
- Michael Day (ORCID: https://orcid.org/0000-0002-1443-5334)
- Claire Turner
- Rebecca Whittington
- Raymond T. O’Keefe (ORCID: https://orcid.org/0000-0001-8764-1289)
- John W. Holloway (ORCID: https://orcid.org/0000-0001-9998-0464)
- Alistair T. Pagnamenta (ORCID: https://orcid.org/0000-0001-7334-0602)
- Charles Shaw‐Smith
- Matina Prapa (ORCID: https://orcid.org/0000-0002-2717-5463)
- James Fasham (ORCID: https://orcid.org/0000-0002-7614-9202)
- Siddharth Banka (ORCID: https://orcid.org/0000-0002-8527-2210)
- Patrick J. Morrison (ORCID: https://orcid.org/0000-0002-2823-1762)
- Paul Clift (ORCID: https://orcid.org/0000-0001-8906-7647)
- Huw B. Thomas (ORCID: https://orcid.org/0000-0001-9626-9706)
- Stephanie Curtis (ORCID: https://orcid.org/0000-0003-4195-6140)
- John Dean (ORCID: https://orcid.org/0000-0003-3841-0841)
- Suresh Somarathi
- Christopher J. Kershaw (ORCID: https://orcid.org/0000-0001-6625-7894)
- Emma L. Baple (ORCID: https://orcid.org/0000-0002-6637-3411)
- Gareth Hawkes (ORCID: https://orcid.org/0000-0002-3367-789X)
- Cassandra L. Smith (ORCID: https://orcid.org/0000-0002-0346-8907)
- Leila Amel Riazat Kesh
- Diana Baralle
- Michael N. Weedon (ORCID: https://orcid.org/0000-0002-6174-6135)
- Sian Ellard
- Catherine Mercer
- Julie Evans
- Katrina Prescott
- Ed Blair
- Helen Cox
- Virginia Clowes
- Meriel McEntagart
- Catherine Fielden
Institutions
- Belfast Health and Social Care Trust (GB)
- North Bristol NHS Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- University of Aberdeen (GB)
- Guy's and St Thomas' NHS Foundation Trust (GB)
- Queen Elizabeth Hospital Birmingham (GB)
- Leeds Teaching Hospitals NHS Trust (GB)
- Royal Devon & Exeter NHS Foundation Trust (GB)
- Salisbury District Hospital (GB)
- Manchester Academic Health Science Centre (GB)
- University Hospitals Bristol NHS Foundation Trust (GB)
- St George’s University Hospitals NHS Foundation Trust (GB)
- Northwick Park Hospital (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- University of Manchester (GB)
- Manchester University NHS Foundation Trust (GB)
- Birmingham Women's Hospital (GB)
- NIHR Exeter Clinical Research Facility (GB)
- Genomics England (GB)
- Oxford BioMedica (United Kingdom) (GB)
- Oxford University Hospitals NHS Trust (GB)
- Genomics (United Kingdom) (GB)
- University of Southampton (GB)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1016/j.gim.2025.101477
- Citations
- 3
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- Wellcome Trust
- Cancer Research UK
- National Institute for Health and Care Research
- Department of Health and Social Care
- Manchester Biomedical Research Centre
- Medical Research Council
- NIHR Oxford Biomedical Research Centre
- NIHR Exeter Clinical Research Facility