Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

ABSTRACT:

Background

One of the most common primary cardiac arrhythmia syndromes is autosomal dominant long QT syndrome, type 1 (LQT1), chiefly caused by mono-allelic mutations in the KCNQ1 gene. Bi-allelic mutations in the KCNQ1 gene are causal to Jervell and Lange-Nielsen syndrome (JLNS), characterized by severe and early-onset arrhythmias with prolonged QTc interval on surface ECG and sensorineural deafness. Occasionally, bi-allelic mutations in KCNQ1 are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1).

Methods

We used Sanger sequencing to detect the pathogenic mutations in KCNQ1 gene in eight families from Saudi Arabia with autosomal recessive LQT1.

Results

We have detected pathog

SUBMITTER: Bdier AY 

PROVIDER: S-EPMC5606890 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature