Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families

Zafari, Zahra; Dalili, Mohammad; Zeinali, S; Saber, Siamak; Far, Amir Farjam Fazeli; Akbari, Mohammad Taghi

doi:10.1016/j.jelectrocard.2017.07.012

Cited by 5 publications

(3 citation statements)

References 39 publications

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“…The sequence analysis of the index patient demonstrated the absence of mutation in the SCN5A and KCNH2 genes but showed a novel homozygous mutation, c.1426_1429delATGC (M476Pfs*4), in KCNQ1 gene. Five patients screened previously were found to have a missense mutation in two RWS families[16] and two frameshift mutations in three JLNS families[17,18].…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Amirian¹,

Zafari²,

Karimipoor³

et al. 2019

ibj

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Background: Long QT syndrome (LQTS) is characterized by the prolongation of QT interval, which results in syncope and sudden cardiac death in young people. KCNQ1 is the most common gene responsible for this syndrome. Methods: Molecular investigation was performed by DNA Sanger sequencing in Iranian families with a history of syncope. In silico examinations were performed for predicting the pathogenicity of the novel variant. Results: A novel homozygous KCNQ1 frameshift mutation, c.1426_1429delATGC (M476Pfs*4), was identified, and then the current literatures of five patients were reviewed regarding the LQTS. Conclusion: The novel frameshift mutation has been reported for the first time among the Iranian population. Our finding along with the case series study of LQTS patients illustrates the importance of genetic and case series in precise detection of the frequency of LQTS carriers.

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Section: Discussionmentioning

confidence: 99%

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Amirian¹,

Zafari²,

Karimipoor³

et al. 2019

ibj

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“…The 2 patients analyzed in this report are not resourcefully linked, haplotype analysis by linked STR markers surrounding the KCNQ1 gene, demonstrating that the source of the mutation in both patients is the same. In addition, according to the previous statement, in such a huge endogamous community in which consanguineous marriages are common, we would expect the same mutation in 2 apparently unrelated families originate from a unique source and could be a founder mutation. Both of families are from the southwestern of Iran (Khuzestan Province).…”

Section: Discussionmentioning

confidence: 99%

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

Amirian

Zafari

Dalili

et al. 2018

Journal of Arrhythmia

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Jervell‐Lange Nielsen syndrome (JLNS) with autosomal recessive inheritance is a congenital cardiovascular disorder characterized by prolongation of QT interval on the ECG and deafness. We have performed molecular investigation by haplotype analysis and DNA Sanger sequencing in 2 unrelated Iranian families with a history of syncope. Mutational screening of KCNQ1 gene revealed the novel homozygous frameshift mutation c.733‐734delGG (p.G245Rfs*39) in 2 obviously unrelated cases of JLNS which is probably a founder mutation in Iran. The novel mutation detected in this study is the first time reported among Iranian population and will be beneficial in the tribe and region‐specific cascade screening of LQTS in Iran.

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“…We have previously described the genetic spectrum of the common types of LQT syndromes in our population. [ 5 , 8 , 17 ]. Here, we report a novel stop-gain pathogenic variant in KCNQ1 causing LQT1 in an Iranian child.…”

Section: Introductionmentioning

confidence: 99%

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

et al. 2023

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Background Inherited primary arrhythmias, such as long QT (LQT) syndromes, are electrical abnormalities of the heart mainly due to variants in 3 genes. We herein describe a novel stop-gain pathogenic variant in the KCNQ1 gene in an Iranian child with LQT syndrome 1. Methods The patient and his family underwent clinical evaluation, electrocardiographic Holter monitoring, and whole-exome sequencing. Sanger sequencing and segregation analysis were used to confirm the variant in the patient and his family, respectively. The pathogenicity of the variant was checked via an in silico analysis. Results The proband suffered from bradycardia and had experienced syncope without stress. The corrected QT interval was 470 ms (the Schwartz score ≥ 3.5), and the Holter monitoring showed sinus rhythm, infrequent premature atrial contractions, and a prolonged QT interval in some leads. Whole-exome and Sanger sequencing showed c.968G > A in 3 affected family members. According to the American College of Medical Genetics and Genomics criteria, c.968G > A was classified as a pathogenic variant. Conclusions The KCNQ1 gene is the main cause of LQT syndromes in our population. The common genes of LQT syndromes should be studied in our country’s different ethnicities to determine the exact role of these genes in these subpopulations.

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Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families

Cited by 5 publications

References 39 publications

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families

Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1

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