Table 1.
D85D major homozygotes | D85N heterozygotes | N85N minor homozygotes | |
---|---|---|---|
All subjects | |||
n (%) | 689 (96.8) | 21 (2.9) | 2 (0.3) |
Age (years) | 29.7 ± 20.0 | 28.7 ± 20.2 | 7.0 ± 4.2 |
Males (%) | 280 (40.6) | 8 (38.1) | 2 (100) |
QTc (ms) | 458 ± 36.8 | 472 ± 35.2 | 468 ± 34.6 |
Founder mutation status | |||
KCNQ1 G589D | |||
n | 474a | 16b | 2 |
QTc | 459 ± 36.2 | 479 ± 31.0 | 468 ± 34.6 |
KCNQ1 IVS7-2A>G | |||
n | 66b | 0 | 0 |
QTc | 465 ± 30.0 | - | - |
KCNH2 L552S | |||
n | 71c | 2 | 0 |
QTc | 464 ± 48.3 | 490 ± 7.1 | - |
KCNH2 R176W | |||
n | 84d | 4e | 0 |
QTc | 445 ± 30.6 | 442 ± 46.5 | - |
The figures represent the mean ± SD. SD, standard deviation; QTc, heart rate-corrected QT interval.
aFour subjects carrying also KCNH2 R176W, one KCNH2 L552S, and one KCNQ1 Y171X.
bOne subject carrying also KCNH2 R176W.
cIncludes two KCNH2 L552S homozygotes and one subject carrying also KCNQ1 G589D.
dFour subjects carrying also KCNQ1 G589D and one KCNQ1 IVS7-2A>G.
eOne subject carrying also KCNQ1 G589D.