Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Abstract Background The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was observed in nine families presenting with either Jervell-Lange-Niels...

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Bibliographic Details
Main Authors: Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys
Format: Article
Language:English
Published: BMC 2023-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
KCNQ1
LQTS
Jervell-Lange-Nielsen
Recurrent mutation
iPSC-CMs
Online Access:https://doi.org/10.1186/s13023-023-02618-4

Internet

https://doi.org/10.1186/s13023-023-02618-4

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