Article
De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome.
Clinical genetics - 1 Nov 2014
Al-Aama J Y, Al-Ghamdi S, Bdier A Y, Wilde A A M, Bhuiyan Zahurul A
Abstract excerpt
Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive disorder, clinically characterized by severe cardiac arrhythmias [due to prolonged QTc interval in electrocardiogram (ECG)] and bilateral sensory neural deafness. Molecular defects causal to JLNS are either homozygous or compound heterozygous mutations, predominantly in the KCNQ1 gene and occasionally in the KCNE1 gene. As the molecular defect is...
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