Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY Molecular Syndromology Pub Date : 2023-10-01 Epub Date: 2023-06-02 DOI:10.1159/000530513

Elcin Bora, Ayca Yıldız Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan, Ebru Ozpelit, Ayfer Ulgenalp, Ahmet Okay Caglayan

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Abstract

Introduction: Long QT syndrome (LQTS) is a disorder of ventricular myocardial repolarization characterized by a prolonged QT interval on the electrocardiogram. It increases the risk of ventricular arrhythmias, which can cause syncope or sudden cardiac death. In this study, we study the genotype-phenotype relationships of patients referred to us with suspected arrhythmia syndrome.

Methods: Seventeen cases and their twenty relatives were evaluated. Next-generation sequencing analysis was performed for 17 LQTS-related genes.

Results: We detected seventeen single nucleotide variants (SNVs) with potential pathogenic significance in 26 of the 36 subjects analyzed. KCNH2 c.172G>A, KCNQ1 c.1768G>A, ANK2 c.4666A>T, c.1484_1485delCT, KCNH2 c.1888G>A were reported as pathogenic or likely pathogenic in HGMD variant classification database.

Conclusion: Current study pointed out that early diagnosis can be life-saving for patients and their families by taking family history and detailed examination. Also, we highlight the clinical heterogeneity of arrhythmia syndrome through a patient with a dual phenotype.

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长QT综合征患者的临床异质性及17个受影响家庭的单核苷酸变异分离和临床症状。

引言：长QT综合征（LQTS）是一种以心电图QT间期延长为特征的心室心肌复极障碍。它增加了室性心律失常的风险，而室性心律心律失常可导致晕厥或心源性猝死。在这项研究中，我们研究了转诊给我们的疑似心律失常综合征患者的基因型-表型关系。方法：对17例患者及其20例亲属进行评估。对17个LQTS相关基因进行了下一代测序分析。结果：我们在分析的36名受试者中的26名中检测到17种具有潜在致病意义的单核苷酸变异（SNV）。在HGMD变异分类数据库中，KCNH2 c.172G>A、KCNQ1 c.1768G>A、ANK2 c.4666A>T、c.1484_1485delCT、KCNH2 c.1888G>A被报告为致病性或可能致病性。结论：目前的研究指出，通过家族史和详细检查，早期诊断可以挽救患者及其家人的生命。此外，我们通过具有双重表型的患者强调心律失常综合征的临床异质性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.