Table 1. Identification of known-gene and disease-causing variant in the LQTS.
| Phenotype | Gene symbol | Transcript ID | cDNA level change | Protein level change | QTc (ms) | Symptoms | HGMD † , others |
|---|---|---|---|---|---|---|---|
| LQT1* | KCNQ1 | NM_000218.2 | c.760G>A | p.V254M | 570 | syncope | CM960898 [11] |
| LQT1* | KCNQ1 | NM_000218.2 | c.965C>T | p.T322M | 474 | asympt | CM057152 [12] |
| LQT1 | KCNQ1 | NM_000218.2 | c.683+2T>G | - | 470 | Asymp | Pedigree analysis |
| LQT1 | KCNQ1 | NM_000218.2 | c.1032+1G>A | - | 572 | TdP VF Sym40yo | Pedigree analysis |
| LQT2* | KCNH2 | NM_000238.3 | c.1849T>C | p.F617L | 475 | asympt | |
| LQT2* | KCNH2 | NM_000238.3 | c.1831T>G | p.Y611D | 490 | VF | CM107399 [13] |
| LQT2* | KCNH2 | NM_000238.3 | c.307+2T>A | - | 548 | asympt | |
| LQT3* | SCN5A | NM_001160160.1 | c.4900G>A | p.V1634I | 448 | TdP | |
| LQT4* | ANK2 | NM_001148.4 | c.2474C>T | p.T825I | 436 | syncope | |
| LQT4* | ANK2 | NM_001148.4 | c.4876A>G | p.K1626E | 650 | syncope | |
| LQT4* | ANK2 | NM_001148.4 | c.6149T>C | p.I2050T | 464 | VF | |
| LQT4* | ANK2 | NM_001148.4 | c.8123T>C | p.V2708A | 420 | asympt | |
| LQT5 | KCNE1 | NM_000219.3 | c.253G>A | p.D85N | 492 | asympt | CM040436 [14], Pedigree analysis, rare variant |
| LQT9 | CAV3 | NM_033337.2 | c.37A>T | p.I13F | 466 | asympt | Pedigree analysis, SNV |
| LQT11* | AKAP9 | NM_147185.2 | c.2295T>A | p.D765E | 453 | asympt | |
| LQT11* | AKAP9 | NM_147185.2 | c.5341T>A | p.S1781T | 457 | asympt | |
| LQT12* | SNTA1 | NM_003098.2 | c.1498C>T | p.R500C | 444 | asympt | |
| NOS1AP | NM_014697.2 | c.1276G>A | p.V426M | 413 | asympt | disease causing variant | |
| NOS1AP | NM_014697.2 | c.824C>T | p.S275F | 453 | syncope | disease causing variant |
asympt; asymptomatic, SNV: single nucleotide variant
†accession number obtained from HGMD professional (ver. 2014.4, accessed on Mar. 19, 2015)
*mutations detected in known LQTS genes for non-pedigree cases.