CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Identification of a novel KCNQ1 frameshift mutation and review of the literature among iranian long QT families
Authors
A. Amirian
M. Dalili
+6 more
A.F. Fazelifar
M. Karimipoor
A. Kordafshari
S. Saber
Z. Zafari
S. Zeinali
Publication date
1 January 2019
Publisher
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.14261429delATGC (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 carrierscarriers. © 2019, Pasteur Institute of Iran. All rights reserved
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
eprints Iran University of Medical Sciences
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:eprints.iums.ac.ir:13516
Last time updated on 01/12/2020