Table 1.
LQTS-mutations identified in 17 neonates with a prolonged QT interval
| LQTS mutations | Gender | QTc | Inheritance | Mutation carriers among family members# |
Mutation characteristics* | |||
|---|---|---|---|---|---|---|---|---|
| QTc > 470 | ||||||||
| KCNQ1-R190Q | M | 482 | Maternal | 1/3 (33%) | A29 | B29 | C | |
| KCNQ1-R190W | F | 506 | Paternal | 6/10 (60%) | A30 | C | ||
| KCNQ1-R190W | F | 478 | Paternal | 1/3 (33%) | A30 | |||
| KCNQ1-D202H | M | 492 | De novo | A30 | ||||
| KCNQ1-I204M | F | 487 | Maternal | 1/2 (50%) | A30 | C | ||
| KCNQ1-W305X | F | 476 | Paternal | 4/5 (80%) | A31 | C | ||
| KCNQ1-R380G | M | 474 | Maternal | 3/6 (50%) | A32 | C | ||
| KCNQ1-P631+19X | M | 481 | Maternal | 3/12 (25%) | A33 | C | ||
| KCNH2-F29S | M | 555 | Paternal | 1/2 (50%) | B*** | C | ||
| KCNH2-F617L | F | 513 | Maternal | 2/4 (50%) | B*** | C | ||
| KCNH2-delK638 | F | 513 | Paternal | 1/2 (50%) | A34,35 | B35 | C | |
| KCNH2-R744X | F | 474 | Paternal | 9/14 (64%) | A36 | C | ||
| 461 < QTc ≤ 470 | ||||||||
| KCNQ1-T221M | } | A34 | C | |||||
| KCNH2-R922W | F | 461 | Paternal | 4/6 (66%) | B*** | |||
| KCNH2-D102V | F | 465 | Maternal | 2/5 (40%) | B*** | C | ||
| KCNE1-S28L** | M | 465 | Paternal | 2/3 (66%) | A37 | C | ||
| KCNE2-I57T | M | 462 | Maternal | 2/5 (40%) | A38,39 | B38 | C | |
#
Probands not included
*
A: Already known LQTS mutation, B: Functional effect, C: Positive Genotype-Phenotype correlation among family-members
**
Associated with KCNE1-D85N, KCNE1-S38G, KCNH2-K897T, SCN5A-H558R
***
Besana et al. (unpublished data)