Key result
Mutational screening of the KCNQ1 gene revealed a novel homozygous frameshift mutation c.733-734delGG in 2 unrelated Iranian cases of Jervell-Lange Nielsen syndrome.
Case Report (n=2)
A novel KCNQ1 frameshift mutation was identified in Iranian patients with Jervell and Lange-Nielsen syndrome, which may serve as a founder mutation and aid in regional cascade screening for Long QT Syndrome.
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.
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Amirian et al. (2018) conducted a case report in Jervell and Lange-Nielsen syndrome (n=2). KCNQ1 gene mutation screening was evaluated on Detection of KCNQ1 mutation. Mutational screening of the KCNQ1 gene revealed a novel homozygous frameshift mutation c.733-734delGG in 2 unrelated Iranian cases of Jervell-Lange Nielsen syndrome.
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