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.

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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

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article

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Abhijit Dixit, Yeşim Kesim, Neil Thomas, Ian Berry et al.
3 citations
Genetics in Medicine
Connective tissue disorders research
5.45
article

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

Abhijit Dixit, Yeşim Kesim, Neil Thomas, Ian Berry, Jenny C. Taylor, Ravi Tharakan, Susan Walker, Sarah Smithson, Simon Holden, Andrew R. Wood, Suzanne Alsters, Htoo A. Wai, Déborah Morris-Rosendahl, Ajoy Sarkar, David J. Bunyan, Michael Day, Claire Turner, Rebecca Whittington, Raymond T. O’Keefe, John W. Holloway, Alistair T. Pagnamenta, Charles Shaw‐Smith, Matina Prapa, James Fasham, Siddharth Banka, Patrick J. Morrison, Paul Clift, Huw B. Thomas, Stephanie Curtis, John Dean, Suresh Somarathi, Christopher J. Kershaw, Emma L. Baple, Gareth Hawkes, Cassandra L. Smith, Leila Amel Riazat Kesh, Diana Baralle, Michael N. Weedon, Sian Ellard, Catherine Mercer, Julie Evans, Katrina Prescott, Ed Blair, Helen Cox, Virginia Clowes, Meriel McEntagart, Catherine Fielden
article en
3 citations

Abstract

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.

Genetics in MedicineVol. 27(9)
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)
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
Zero hunger
Openalex Percentile: Top 5%
Connective tissue disorders research
5.45
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