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.
Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA.
Q
Q
Wang
M E
ME
Curran
I
I
Splawski
T C
TC
Burn
J M
JM
Millholland
T J
TJ
VanRaay
J
J
Shen
K W
KW
Timothy
G M
GM
Vincent
T
T
de Jager
P J
PJ
Schwartz
J A
JA
Toubin
A J
AJ
Moss
D L
DL
Atkinson
G M
GM
Landes
T D
TD
Connors
M T
MT
Keating
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