Article
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2025
Walker Susan, Bunyan David J, Thomas Huw B, Kesim Yesim, Kershaw Christopher J, Holloway John, Wai Htoo, Day Michael, Smith Cassandra L, Hawkes Gareth, Wood Andrew R, Weedon Michael N, Blair Ed, Curtis Stephanie L, Fielden Catherine, Evans Julie, Whittington Rebecca, Smithson Sarah F, Cox Helen, Clift Paul, McEntagart Meriel, Prapa Matina, Alsters Suzanne, Morris-Rosendahl Deborah, Dean John, Morrison Patrick J, Dixit Abhijit, Sarkar Ajoy, Prescott Katrina, Amel Riazat Kesh Leila, Tharakan Riya, Turner Claire, Ellard Sian, Shaw-Smith Charles, Fasham James, Clowes Virginia, Holden Simon, Somarathi Suresh, Mercer Catherine, Berry Ian, O'Keefe Raymond T, Banka Siddharth, Baralle Diana, Thomas N Simon, Baple Emma L, Taylor Jenny C, Pagnamenta Alistair T
Abstract excerpt
PURPOSE: To quantify the impact of noncanonical FBN1 splice site variants in undiagnosed Marfan syndrome (MFS), a connective tissue disorder associated with skeletal abnormalities and familial thoracic aortic aneurysm disease (FTAAD). METHODS: A systematic analysis of ultrarare FBN1 variants was performed using genome sequencing data from the 100,000 Genomes Project. Variants were annotated with SpliceAI and the...
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