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Article

A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific reports - 15 Feb 2018

Wu Jie, Mizusawa Yuka, Ohno Seiko, Ding Wei-Guang, Higaki Takashi, Wang Qi, Kohjitani Hirohiko, Makiyama Takeru, Itoh Hideki, Toyoda Futoshi, James Andrew F, Hancox Jules C, Matsuura Hiroshi, Horie Minoru

Abstract excerpt

Congenital long QT syndrome (LQTS) caused by compound mutations is usually associated with more severe clinical phenotypes. We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K). KCNQ1-R174C, hERG-E1039X and SCN5A-E428K mutations and/or relevant wild-type (WT) cDNAs were respectively expressed in mammalian cells. IKs-like, IKr-like, INa-like...

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Identifiers

PMID: 29449639
DOI: 10.1038/s41598-018-21442-6
PMCID: PMC5814447

Genes

KCNQ1

Variants

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