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http://purl.uniprot.org/citations/34672437http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34672437http://www.w3.org/2000/01/rdf-schema#comment"

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 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-frame loss of 71 amino acids and a dominant-negative effect in the smooth muscle myosin rod. This RNA defect is also reported in 3 other HTAAD/PDA pedigrees.

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."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.org/dc/terms/identifier"doi:10.1002/mgg3.1814"xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Khau Van Kien P."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Plancke A."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Julia S."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Edouard T."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Dulac Y."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Plaisancie J."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Langeois M."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Rolland G."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Lavabre-Bertrand T."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Marcheix B."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Aubert-Mucca M."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/author"Chesneau B."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/name"Mol Genet Genomic Med"xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/pages"e1814"xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/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."xsd:string
http://purl.uniprot.org/citations/34672437http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/34672437http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/34672437
http://purl.uniprot.org/citations/34672437http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/34672437
http://purl.uniprot.org/uniprot/#_A0A024QZJ4-mappedCitation-34672437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34672437
http://purl.uniprot.org/uniprot/#_B1PS43-mappedCitation-34672437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34672437
http://purl.uniprot.org/uniprot/#_O14729-mappedCitation-34672437http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/34672437
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