Article
A novel mutation in the transmembrane nonpore region of the KCNH2 gene causes severe clinical manifestations of long QT syndrome.
Heart rhythm - 1 Jan 2013
Liu Li, Hayashi Kenshi, Kaneda Tomoya, Ino Hidekazu, Fujino Noboru, Uchiyama Katsuharu, Konno Tetsuo, Tsuda Toyonobu, Kawashiri Masa-aki, Ueda Kosei, Higashikata Toshinori, Shuai Wen, Kupershmidt Sabina, Higashida Haruhiro, Yamagishi Masakazu
Abstract excerpt
BACKGROUND: Long QT syndrome (LQTS) is characterized by prolonged ventricular repolarization and variable clinical course with arrhythmia-related syncope and sudden death. Mutations in the nonpore region of the LQTS-associated KCNH2 gene (also known as hERG) are mostly associated with coassembly or trafficking abnormalities, resulting in haplotype insufficiency and milder clinical phenotypes compared with...
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