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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606209/
https://www.ncbi.nlm.nih.gov/pubmed/34672437
http://dx.doi.org/10.1002/mgg3.1814

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