A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Bárbara Bruna R Oliveira-MendesSylvain FeliciangeliMélissa MénardFrank ChatelainMalak AlamehJérôme MontnachSébastien NicolasBéatrice OllivierJulien BarcIsabelle BaróJean-Jacques SchottVincent ProbstFlorence KyndtIsabelle DenjoyFlorian LesageGildas Loussouarn Michel De Waard

Published in: Clinical and translational medicine (2022)

Fast-track characterisation of KCNH2 genetic variants shows its relevance to discriminate mutants that affect hERG channel activity from variants with undetectable effects. It also helped the diagnosis of two new variants. This information is meant to fill a patient database, as a basis for personalised medicine. The next steps will be to further accelerate the process using an automated patch-clamp system.

Keyphrases

copy number
genome wide
case report
high throughput
dna methylation
biofilm formation
emergency department
adverse drug
escherichia coli
pseudomonas aeruginosa
wild type