Key result
Novel homozygous KCNQ1 frameshift mutation underlies familial Long QT syndrome presenting with syncope.
Why the study?
KCNQ1 is the most common gene responsible for LQTS, but novel mutations and their prevalence in the Iranian population were not previously identified.
Case Report
Novel KCNQ1 frameshift variant identified in Iranian LQTS families; extends mutation spectrum but leaves pathogenicity and screening implications open.
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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Amirian et al. (2019) conducted a case report in Long QT syndrome (LQTS). KCNQ1 frameshift mutation (c.1426_1429delATGC) was evaluated on Identification of pathogenic variants. A novel homozygous KCNQ1 frameshift mutation, c.1426_1429delATGC (M476Pfs*4), was identified in Iranian families with a history of syncope and Long QT syndrome.
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