PubMed 26717233

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: KCNQ1 , Kv11.1 , Kv7.1

Title: Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout.

Authors: Tomas Robyns, Cuno Kuipéri, Rik Willems, Anniek Corveleyn, Dieter Nuyens

Journal, date & volume: Acta Cardiol, 2015 Dec , 70, 747-9

PubMed link:

We present a new mutation in KCNH2 (c.2038delG) resulting in a frameshift and premature truncation of the IKr channel protein in a large LQTS family with several sudden death cases. This mutation was initially missed by mutation scanning with DHPLC due to allelic dropout and only retrieved after repeat genetic testing with targeted capture and massive parallel sequencing. There was full penetrance of this mutation, only if an individualized QT correction derived from 24-hour Holter data was used. This case again underscores the importance of repeat genetic testing in robust cases of LQTS that remained genotype negative with mutation scanning techniques.