Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness
Abstract
:1. Introduction
2. Results
2.1. Identification of a Homozygous KCNQ1 Gene Mutation in a Family with LQTS without Hearing Impairment
2.2. Electrophysiological Characterization of the KCNQ1P631fs*20 Variant Revealed a Loss-of-Function in Both Homozygous and Heterozygous states
2.3. In Electrophysiological Recordings, KCNE1 Rescued the KCNQ1P631fs*20 Loss-of-Function Present in the Heteromeric State with KCNQ1WT
2.4. The KCNQ1P631fs*20 Mutant does Not alter the Gating of Homomeric and Heteromeric IKs Channel Complexes
2.5. Action Potential Modelling Predicts a QT Prolongation Exclusively Present In Homozygous Patients
3. Discussion
4. Materials and Methods
4.1. Clinical Evaluation
4.2. Molecular Biology
4.3. Electrophysiology
4.4. Action Potential Modelling
4.5. Data Analysis
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Oertli, A.; Rinné, S.; Moss, R.; Kääb, S.; Seemann, G.; Beckmann, B.-M.; Decher, N. Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness. Int. J. Mol. Sci. 2021, 22, 1112. https://doi.org/10.3390/ijms22031112
Oertli A, Rinné S, Moss R, Kääb S, Seemann G, Beckmann B-M, Decher N. Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness. International Journal of Molecular Sciences. 2021; 22(3):1112. https://doi.org/10.3390/ijms22031112
Chicago/Turabian StyleOertli, Annemarie, Susanne Rinné, Robin Moss, Stefan Kääb, Gunnar Seemann, Britt-Maria Beckmann, and Niels Decher. 2021. "Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness" International Journal of Molecular Sciences 22, no. 3: 1112. https://doi.org/10.3390/ijms22031112
APA StyleOertli, A., Rinné, S., Moss, R., Kääb, S., Seemann, G., Beckmann, B. -M., & Decher, N. (2021). Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness. International Journal of Molecular Sciences, 22(3), 1112. https://doi.org/10.3390/ijms22031112