A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2

Gu, Kai; Qian, Duoduo; Qin, Huiyuan; Cui, Chang; Fernando, Winnie; Wang, Dao Wu; Wang, Juejin; Cao, Kejiang; Chen, Minglong

doi:10.1007/s00424-021-02518-1

Cited by 4 publications

(2 citation statements)

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“…In silico analysis predicts the variant to be probably deleterious to the protein structure and/or function. An alternative missense variant in the same residue (p.(Ser631Ala)) has been reported in the Human Gene Mutation Database linked with a long QT syndrome [ 19 ], supporting the functional importance of this residue. Further functional analyses would be warranted to elucidate the particular consequences of the alteration.…”

Section: Discussionmentioning

confidence: 91%

“…Congenital LQTS (ORPHA:768) is a clinical disorder of genetic origin characterized by delayed repolarisation of the myocardium, electrocardiographic QT prolongation, and increased risk of syncope, seizures, and SCD caused by polymorphic ventricular tachycardia, known as Torsades des Pointes (TdP) [3]. To date, pathogenic variants associated with LQTS have been identified in 19 autosomal-recessive pattern (TRDN), and two following both autosomal-dominant andrecessive patterns (KCNQ1 and KCNE1) [4,5]. LQT1, LQT2, and LQT3 genotypes comprise more than 95% of the patients with genotype-positive LQTS and approximately 75% of all patients with LQTS [6].…”

Section: Introductionmentioning

confidence: 99%

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Aborted Cardiac Arrest in LQT2 Related to Novel KCNH2 (hERG) Variant Identified in One Lithuanian Family

et al. 2021

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Congenital long QT syndrome (LQTS) is a hereditary ion channelopathy associated with ventricular arrhythmia and sudden cardiac death starting from young age due to prolonged cardiac repolarization, which is represented by QT interval changes in electrocardiogram (ECG). Mutations in human ether-à-go-go related gene (KCNH2 (7q36.1), formerly named hERG) are responsible for Long QT syndrome type 2 (LQT2). LQT2 is the second most common type of LQTS. A resuscitated 31-year-old male with the diagnosis of LQT2 and his family are described. Sequencing analysis of their genomic DNA was performed. Amino acid alteration p.(Ser631Pro) in KCNH2 gene was found. This variant had not been previously described in literature, and it was found in three nuclear family members with different clinical course of the disease. Better understanding of genetic alterations and genotype-phenotype correlations aids in risk stratification and more effective management of these patients, especially when employing a trigger-specific approach to risk-assessment and individually tailored therapy.

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Section: Discussionmentioning

confidence: 91%