{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(11)"],"submitter":["Chesneau B"],"pubmed_abstract":["<h4>Background</h4>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).<h4>Methods and results</h4>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 site of intron 32 of MYH11 potentially altering splicing (NM_002474.3:c.4578+3A>C). Although its cosegregation with disease was observed, it remained of unknown significance. Later, aortic surgery in the proband gave us the opportunity to perform a transcript analysis. This showed a skipping of the exon 32, an RNA defect previously reported to be translated to an in-fra"],"journal":["Molecular genetics & genomic medicine"],"pagination":["e1814"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8606209"],"repository":["biostudies-literature"],"pubmed_title":["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."],"pmcid":["PMC8606209"],"pubmed_authors":["Khau Van Kien P","Aubert-Mucca M","Rolland G","Lavabre-Bertrand T","Dulac Y","Langeois M","Chesneau B","Julia S","Edouard T","Plaisancie J","Plancke A","Marcheix B"],"additional_accession":[]},"is_claimable":false,"name":"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.","description":"<h4>Background</h4>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).<h4>Methods and results</h4>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 site of intron 32 of MYH11 potentially altering splicing (NM_002474.3:c.4578+3A>C). Although its cosegregation with disease was observed, it remained of unknown significance. Later, aortic surgery in the proband gave us the opportunity to perform a transcript analysis. This showed a skipping of the exon 32, an RNA defect previously reported to be translated to an in-fra","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Nov","modification":"2026-05-09T09:59:54.109Z","creation":"2022-02-11T13:22:30.469Z"},"accession":"S-EPMC8606209","cross_references":{"pubmed":["34672437"],"doi":["10.1002/mgg3.1814"]}}