Ontology highlight
ABSTRACT:
SUBMITTER: Amirian A
PROVIDER: S-EPMC6010008 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Journal of arrhythmia 20180416 3
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 <i>KCNQ1</i> gene revealed the novel homozygous frameshift mutation c.733-734delGG (p.G245Rfs*39) in 2 obviously unrelated cases of JLNS which ...[more]