{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T04:32:30Z","timestamp":1776313950009,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T00:00:00Z","timestamp":1634774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic variants in <jats:italic>MYH11<\/jats:italic> are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis\u2010microcolon\u2010intestinal hypoperistalsis syndrome (MMIHS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>We report a family referred for molecular diagnosis with HTAAD\/PDA phenotype in which we found a variant at a non\u2010conserved position of the 5\u2019 donor splice site of intron 32 of <jats:italic>MYH11<\/jats:italic> potentially altering splicing (NM_002474.3:c.4578+3A&gt;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\u2010frame loss of 71 amino acids and a dominant\u2010negative effect in the smooth muscle myosin rod. This RNA defect is also reported in 3 other HTAAD\/PDA pedigrees.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report confirms that among rare variants in <jats:italic>MYH11<\/jats:italic>, skipping of exon 32 is recurrent. This finding is of particular interest to establish complex genotype\u2013phenotype correlations where some alleles are associated with autosomal dominant HTAAD\/PDA, while others result in recessive or dominant visceral myopathies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1814","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T17:11:46Z","timestamp":1634836306000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["A +3 variant at a donor splice site leads to a skipping of the <i>MYH11<\/i> exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and\/or Patent Ductus Arteriosus"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9729-7346","authenticated-orcid":false,"given":"Bertrand","family":"Chesneau","sequence":"first","affiliation":[{"name":"UF de G\u00e9n\u00e9tique M\u00e9dicale et 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