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

Amirian, Azam; Zafari, Zahra; Karimipoor, Morteza; Kordafshari, Alireza; Dalili, Mohammad; Saber, Siamak; Farjam Fazelifar, Amir; Zeinali, Sirous

doi:10.29252/ibj.23.3.228

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

Authors

Azam Amirian ¹

Zahra Zafari ¹

Morteza Karimipoor ¹

Alireza Kordafshari ¹

Mohammad Dalili ²

Siamak Saber ²

Amir Farjam Fazelifar ²

Sirous Zeinali ²

¹ Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran

² Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran

10.29252/ibj.23.3.228

Abstract

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.

Keywords

Jervell-Lange‐Nielsen syndrome

KCNQ1

Long QT syndrome

Romano-Ward syndrome