Who Is The Pathogenic Culprit? A Lqts Family With Three Compound Genetic Mutations

Jie Wu,Seiko Ohno,Wei-Guang Ding,Chao Dong,Lingling Song,Hiroshi Matsuura,Minoru Horie

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY（2018）

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摘要

Congenital long QT syndrome (LQTS) caused by compound mutations is usually associated with more severe clinical phenotypes, however, the underlying mechanisms remain unclear. We identified a LQTS family harboring three compound mutations in different genes ( KCNQ1 -R174C, KCNH2 -E1039X and SCN5A -

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