Key result
Next-generation sequencing identified pathogenic or likely pathogenic variants in 38% (5 of 13) of patients with hereditary arrhythmias, including three novel mutations in the MYLK2, DSG2, and KCNQ1 genes.
Why the study?
Hereditary cardiac arrhythmias such as long QT syndrome and arrhythmogenic right ventricular cardiomyopathy exhibit high genetic heterogeneity, requiring next-generation sequencing to reveal their underlying genetic etiology.
Does next-generation sequencing identify underlying pathogenic mutations in patients with long QT syndrome or borderline long QT?
Observational (n=13)
Does next-generation sequencing identify underlying pathogenic mutations in patients with long QT syndrome or borderline long QT?
Answers are grounded in this paper and cite their sources.
Next-generation sequencing identified pathogenic or likely pathogenic variants in 38% of patients with long QT syndrome, including novel mutations in genes not classically associated with LQTS, expanding the molecular scope of the disease.
BACKGROUND: Hereditary cardiac arrhythmias result from mutations in various genes encoding ion channels. One major channelopathy is long QT syndrome, which has excel- lent genetic and clinical heterogeneity. Arrhythmogenic right ventricular cardiomyopa- thy, another hereditary arrhythmia type, also shows high genetic heterogeneity and variable expressivity. Next-generation sequencing is an effective tool to reveal the dis- ease's underlying genetic etiology. METHODS: In this study, we performed clinical exome sequencing or gene panel including cardiac arrhythmia and cardiomyopathy-associated genes by next-generation sequenc-ing in 13 unrelated patients. RESULTS: Five pathogenic or likely pathogenic mutations, including three novel mutations, were found in the total cases. CONCLUSION: This research shows a strong genetic heterogeneity in the disease. In addi- tion, the study revealed that patients with QT interval prolongation on electrocardio- gram might also have mutations in genes that are not associated with long QT syndrome, such as MYLK2 and DSG2. Therefore, our data helped expand the molecular scope of long QT syndrome. It is necessary to study with a broad perspective to elucidate the underly- ing molecular etiology in patients with hereditary cardiac arrhythmias.
No takes yet. Share an insight, caveat, or question.
Saat et al. (2022) conducted an observational in Hereditary arrhythmias (n=13). Next-generation sequencing was evaluated on Detection of pathogenic or likely pathogenic variants. Next-generation sequencing identified pathogenic or likely pathogenic variants in 38% (5 of 13) of patients with hereditary arrhythmias, including three novel mutations in the MYLK2, DSG2, and KCNQ1 genes.
Synapse has enriched 10 related papers. Consider them for comparative context: