Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families

Azam Amirian | Zahra Zafari | Mohammad Dalili | Siamak Saber | Morteza Karimipoor | Samira Dabbagh Bagheri | Amir Farjam Fazelifar | Sirous Zeinali

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URL :   http://research.shahed.ac.ir/WSR/WebPages/Report/PaperView.aspx?PaperID=95790
Date :  2018/04/16
Publish in :    Journal of Arrhythmia
DOI :  https://doi.org/10.1002/joa3.12042
Link :  http://dx.doi.org/ 10.1002/joa3.12042
Keywords :KCNQ, frameshift, mutation, associated, Jervell, Lange-Nielsen, syndrome

Abstract :

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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 KCNQ1 gene revealed the novel homozygous frameshift mutation c.733‐734delGG (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.