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Article

A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.

Heart and vessels - 1 Jan 2019

Chen Xiao-Meng, Guo Kai, Li Hong, Lu Qiu-Fen, Yang Chao, Yu Ying, Hou Jian-Wen, Fei Yu-Dong, Sun Jian, Wang Jun, Li Yi-Xue, Li Yi-Gang

Abstract excerpt

Patients with high-risk long QT syndrome (LQTS) mutations may experience life-threatening cardiac events. The present study sought to characterize a novel pathogenic mutation, KCNQ1p.Thr312del, in a Chinese LQT1 family. Clinical and genetic analyses were performed to identify this novel causative gene mutation in this LQTS family. Autosomal dominant inheritance of KCNQ1p.T312del was demonstrated in the...

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Identifiers

PMID: 30008122
DOI: 10.1007/s00380-018-1223-4

Genes

KCNQ1

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