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A deleterious MYH11 mutation causing familial thoracic aortic dissection.

ABSTRACT: 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.

SUBMITTER: Takeda N 

PROVIDER: S-EPMC4785537 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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A deleterious MYH11 mutation causing familial thoracic aortic dissection.

Takeda Norifumi N   Morita Hiroyuki H   Fujita Daishi D   Inuzuka Ryo R   Taniguchi Yuki Y   Nawata Kan K   Komuro Issei I  

Human genome variation 20150806

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 fo  ...[more]

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