Open AccessDetection of a new KCNQ 1 frameshift mutation associated with Jervell and Lange‐Nielsen syndrome in 2 Iranian families
Author(s) -
Amirian Azam,
Zafari Zahra,
Dalili Mohammad,
Saber Siamak,
Karimipoor Morteza,
Dabbagh Bagheri Samira,
Fazelifar Amir Farjam,
Zeinali Sirous
Publication year - 2018
Publication title -
journal of arrhythmia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 21
eISSN - 1883-2148
pISSN - 1880-4276
DOI - 10.1002/joa3.12042
Subject(s) - frameshift mutation , medicine , genetics , long qt syndrome , sanger sequencing , mutation , haplotype , herg , qt interval , gene , allele , biology , potassium channel
Jervell‐Lange Nielsen syndrome ( JLNS ) with autosomal recessive inheritance is a congenital cardiovascular disorder characterized by prolongation of QT interval on the ECG and deafness. We have performed molecular investigation by haplotype analysis and DNA Sanger sequencing in 2 unrelated Iranian families with a history of syncope. Mutational screening of KCNQ 1 gene revealed the novel homozygous frameshift mutation c.733‐734del GG (p.G245Rfs*39) in 2 obviously unrelated cases of JLNS which is probably a founder mutation in Iran. The novel mutation detected in this study is the first time reported among Iranian population and will be beneficial in the tribe and region‐specific cascade screening of LQTS in Iran.