Key result
A novel homozygous KCNQ1 frameshift mutation, c.1426_1429delATGC, was identified in an Iranian patient with Jervell and Lange-Nielsen syndrome, expanding the known genetic spectrum of Long QT syndrome.
Case Report (n=6)
No
Identifies a novel KCNQ1 frameshift mutation in Iranian patients with Long QT syndrome, highlighting the importance of genetic screening.
Hypothesis-generating for ethnicity-specific LQTS screening in Iranians; leaves open prevalence, pathogenicity, and clinical utility pending larger studies.
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 (n=6). KCNQ1 gene mutations was evaluated on Identification of pathogenic KCNQ1 mutations. A novel homozygous KCNQ1 frameshift mutation, c.1426_1429delATGC, was identified in an Iranian patient with Jervell and Lange-Nielsen syndrome, expanding the known genetic spectrum of Long QT syndrome.
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