Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Nat Genet
; 12(1): 17-23, 1996 Jan.
Article
in En
| MEDLINE
| ID: mdl-8528244
ABSTRACT
Genetic factors contribute to the risk of sudden death from cardiac arrhythmias. Here, positional cloning methods establish KVLQT1 as the chromosome 11-linked LQT1 gene responsible for the most common inherited cardiac arrhythmia. KVLQT1 is strongly expressed in the heart and encodes a protein with structural features of a voltage-gated potassium channel. KVLQT1 mutations are present in affected members of 16 arrhythmia families, including one intragenic deletion and ten different missense mutations. These data define KVLQT1 as a novel cardiac potassium channel gene and show that mutations in this gene cause susceptibility to ventricular tachyarrhythmias and sudden death.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Long QT Syndrome
/
Potassium Channels
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
1996
Document type:
Article
Affiliation country:
Estados Unidos