A deleterious MYH11 mutation causing familial thoracic aortic dissection

The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of T...

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Detalles Bibliográficos
Autores principales: Takeda, Norifumi, Morita, Hiroyuki, Fujita, Daishi, Inuzuka, Ryo, Taniguchi, Yuki, Nawata, Kan, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785537/
https://www.ncbi.nlm.nih.gov/pubmed/27081537
http://dx.doi.org/10.1038/hgv.2015.28
Descripción
Sumario:The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation.

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