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

CONCLUSION: This report confirms that among rare variants in MYH11, skipping of exon 32 is recurrent. This finding is of particular interest to establish complex genotype-phenotype correlations where some alleles are associated with autosomal dominant HTAAD/PDA, while others result in recessive or dominant visceral myopathies.PMID:34672437 | DOI:10.1002/mgg3.1814

Source: Molecular Medicine - October 21, 2021 Category: Molecular Biology Authors: Bertrand Chesneau Aur élie Plancke Guillaume Rolland Bertrand Marcheix Yves Dulac Thomas Edouard Julie Plaisanci é Marion Aubert-Mucca Sophie Julia Maud Langeois Thierry Lavabre-Bertrand Philippe Khau Van Kien Source Type: research