Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
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.
Wang
Q
Q
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA.
Curran
M E
ME
Splawski
I
I
Burn
T C
TC
Millholland
J M
JM
VanRaay
T J
TJ
Shen
J
J
Timothy
K W
KW
Vincent
G M
GM
de Jager
T
T
Schwartz
P J
PJ
Toubin
J A
JA
Moss
A J
AJ
Atkinson
D L
DL
Landes
G M
GM
Connors
T D
TD
Keating
M T
MT
D000595:Amino Acid Sequence; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D015221:Potassium Channels / Q000235:genetics*; D016415:Sequence Alignment; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid
D015221:Potassium Channels