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A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.

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Authors
Bjornsson, Thorsteinn
Thorolfsdottir, Rosa B
Sveinbjornsson, Gardar
Sulem, Patrick
Norddahl, Gudmundur L
Helgadottir, Anna
Gretarsdottir, Solveig
Magnusdottir, Audur
Danielsen, Ragnar
Sigurdsson, Emil L
Adalsteinsdottir, Berglind
Gunnarsson, Sverrir I
Jonsdottir, Ingileif
Arnar, David O
Helgason, Hrodmar
Gudbjartsson, Tomas
Gudbjartsson, Daniel F
Thorsteinsdottir, Unnur
Holm, Hilma
Stefansson, Kari
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Issue Date
2018-09-07

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A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta. 2018, 39(34):3243-3249 European heart journal
Abstract
Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence variants that affect the risk of CoA. We performed a genome-wide association study of CoA among Icelanders (120 cases and 355 166 controls) based on imputed variants identified through whole-genome sequencing. We found association with a rare (frequency = 0.34%) missense mutation p.Arg721Trp in MYH6 (odds ratio = 44.2, P = 5.0 × 10-22), encoding the alpha-heavy chain subunit of cardiac myosin, an essential sarcomere protein. Approximately 20% of individuals with CoA in Iceland carry this mutation. We show that p.Arg721Trp also associates with other CHDs, in particular bicuspid aortic valve. We have previously reported broad effects of p.Arg721Trp on cardiac electrical function and strong association with sick sinus syndrome and atrial fibrillation. Through a population approach, we found that a rare missense mutation p.Arg721Trp in the sarcomere gene MYH6 has a strong effect on the risk of CoA and explains a substantial fraction of the Icelanders with CoA. This is the first mutation associated with non-familial or sporadic form of CoA at a population level. The p.Arg721Trp in MYH6 causes a cardiac syndrome with highly variable expressivity and emphasizes the importance of sarcomere integrity for cardiac development and function.
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https://academic.oup.com/eurheartj/article/39/34/3243/4953519
ae974a485f413a2113503eed53cd6c53
10.1093/eurheartj/ehy142
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