Article
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Molecular genetics & genomic medicine - 1 Nov 2021
Chesneau Bertrand, Plancke Aurélie, Rolland Guillaume, Marcheix Bertrand, Dulac Yves, Edouard Thomas, Plaisancié Julie, Aubert-Mucca Marion, Julia Sophie, Langeois Maud, Lavabre-Bertrand Thierry, Khau Van Kien Philippe
Abstract excerpt
BACKGROUND: Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). METHODS AND RESULTS: We report a family referred for molecular diagnosis with HTAAD/PDA phenotype in which we found a variant at a non-conserved position of the 5' donor splice...
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