A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family

European Journal of Medical Genetics
Lijian XieTingting Xiao

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most common causes of sudden cardiac death (SCD) during childhood and in adolescence. Trans-2, 3-enoyl-CoA reductase-like (Tecrl) gene mutations (Arg196Gln and c.331+1G > A splice site mutation) were first reported in CPVT. Tecrl homozygous c.331+1G > A splice site mutation in iPSCs revealed a definite correlation between Tecrl and Ca2+ transport in cardiomyocytes. However, no other researchers have confirmed Tecrl mutations in CPVT with literature review. In this study, a case of compound heterozygosity in the Tecrl gene (Arg196Gln and c.918+3T > G splice site mutation) was first identified in a 13-year-old boy with CPVT by whole-exome sequencing (WES) and confirmed by Sanger sequence. Support vector machine and neural network analysis predicted that Arg196Gln mutation could decrease the stability of Tecrl structure, the confidence scores were -0.8929 and -0.9930. A STRUM server also confirmed that Arg196Gln mutation may decrease the binding capacity of the substrate and cause an amino acid substitution immediately upstream of the 3-oxo-5-alpha steroid 4-dehydrogenase domain. According to the "human splicing finder" indication and Alamut Visual Splicing...Continue Reading

Citations

Mar 29, 2020·Journal of Clinical Medicine·Michael VeithMartin Borggrefe
Mar 17, 2020·Journal of Cardiovascular Electrophysiology·Alexander Moscu-GregorImma Rost
Jan 23, 2021·The Journal of Biological Chemistry·Yasunori UchidaToshiaki Sakisaka
Dec 29, 2020·Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology·Gregory WebsterZahurul A Bhuiyan
Jun 25, 2021·Journal of Applied Physiology·Mohsin Haseeb, Paul D Thompson

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