این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Biomedical Journal، جلد ۲۳، شماره ۳، صفحات ۲۲۸-۲۳۴
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Identification of a Novel KCNQ1 Frameshift Mutation and Review of the Literature among Iranian Long QT Families
چکیده انگلیسی مقاله 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.
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله | Azam Amirian
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran


| Zahra Zafari
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran


| Morteza Karimipoor
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran


| Alireza Kordafshari
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran


| Mohammad Dalili
Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran


| Siamak Saber
Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran


| Amir Farjam Fazelifar
Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran


| Sirous Zeinali
Cardiac Electrophysiology Research Center, Rajaie Cardiovascular Medical, and Research Center, Iran University of Medical Sciences, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-761&slc_lang=en&sid=1
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/125/article-125-1398135.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Molecular Genetics & Genomics
نوع مقاله منتشر شده مقاله کوتاه
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات