Multiple splicing defects caused by hERG splice site mutation 2592+1G>A associated with long QT syndrome.

Abstract excerpt

Long QT syndrome type 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene (hERG). Cryptic splice site activation in hERG has recently been identified as a novel pathogenic mechanism of LQT2. In this report, we characterize a hERG splice site mutation, 2592+1G>A, which occurs at the 5' splice site of intron 10. Reverse transcription-PCR analyses using hERG minigenes transfected into human...

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