Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Article Details


Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Genomics. 1998 Jul 1;51(1):86-97.

PubMed ID
9693036 [ View in PubMed

Long QT syndrome (LQT) is a cardiac disorder causing syncope and sudden death from arrhythmias. LQT is characterized by prolongation of the QT interval on electrocardiogram, an indicationof abnormal cardiac repolarization. Mutations in KVLQT1, HERG, SCN5A, and KCNE1, genes encoding cardiac ion channels, cause LQT. Here, we define thecomplete genomic structure of three LQT genesand use this information to identify disease-associated mutations. KVLQT1 is composed of 16 exonsand encompasses approximately 400 kb. HERG consists of 16 exons and spans 55 kb. Three exons make up KCNE1. Each intron of these genes contains the invariant GT and AG at the donor and acceptor splice sites, respectively. Intron sequences were used to design primer pairs for the amplification of all exons. Familial and sporadic cases affected bymutations in KVLQT1, HERG, and KCNE1 can nowbe genetically screened to identify individuals at risk of developing this disorder. This work has clinical implications for presymptomatic diagnosis and therapy.

DrugBank Data that Cites this Article

NameUniProt ID
Potassium voltage-gated channel subfamily H member 2Q12809Details
Potassium voltage-gated channel subfamily KQT member 1P51787Details