A deleterious MYH11 mutation causing familial thoracic aortic dissection

Norifumi Takeda; Hiroyuki Morita; Daishi Fujita; Ryo Inuzuka; Yuki Taniguchi; Kan Nawata; Issei Komuro

doi:10.1038/hgv.2015.28

A deleterious MYH11 mutation causing familial thoracic aortic dissection

Hum Genome Var. 2015 Aug 6:2:15028. doi: 10.1038/hgv.2015.28. eCollection 2015.

Authors

Norifumi Takeda¹, Hiroyuki Morita², Daishi Fujita¹, Ryo Inuzuka³, Yuki Taniguchi⁴, Kan Nawata⁵, Issei Komuro¹

Affiliations

¹ Department of Cardiovascular Medicine, The University of Tokyo Hospital , Tokyo, Japan.
² Department of Cardiovascular Medicine, The University of Tokyo Hospital, Tokyo, Japan; Department of Translational Research for Healthcare and Clinical Science, The University of Tokyo Hospital, Tokyo, Japan.
³ Department of Pediatrics, The University of Tokyo Hospital , Tokyo, Japan.
⁴ Department of Orthopedic Surgery, The University of Tokyo Hospital , Tokyo, Japan.
⁵ Department of Cardiovascular Surgery, The University of Tokyo Hospital , Tokyo, Japan.

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.