Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome

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. Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous mar...

Full description

Bibliographic Details
Main Authors: Azam Amirian, Seyed Mohammad Dalili, Zahra Zafari, Siamak Saber, Morteza Karimipour, Vahid Akbari, Amirfarjam Fazelifar, Sirous Zeinali
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2018-01-01
Series:Iranian Journal of Basic Medical Sciences
Subjects:
Arrhythmia
Iran
Jervell and Lange-Nielsen syndrome
KCNQ1
Long-QT syndrome
Romano-Ward syndrome
Online Access:http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdf

Internet

http://ijbms.mums.ac.ir/article_9900_af4ea92404f64e2b7beb535b3c832e8b.pdf

Similar Items