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
Novel frameshift mutation in the KCNQ1 gene responsible for jervell and lange-nielsen syndrome
Authors
V. Akbari
A. Amirian
+6 more
S.M. Dalili
A.F. Fazelifar
M. Karimipoor
S. Saber
Z. Zafari
S. Zeinali
Publication date
1 January 2018
Publisher
Abstract
Objective(s): Jervell and Lange�Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing. Results: DNA sequencing showed a c.15321534delG (p. A512Pfs*81) mutation in the KCNQ1 gene in homozygous form. The results of short tandem repeat (STR) markers showed that the disease in the family is linked to the KCNQ1 gene. The mutation was confirmed in the parents in heterozygous form. Conclusion: This is the first report of this variant in KCNQ1 gene in an Iranian family. The data of this study could be used for early diagnosis of the condition in the family and genetic counseling. © 2018, Mashhad University of Medical Sciences. 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:6135
Last time updated on 10/10/2019
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:988
Last time updated on 10/10/2019