Table 2.
Long QT syndrome as a causative factor of SIDS and implicated mutations—Genetic studies focusing on one single or two genes
| Study/year | Study type | Total number of cases | Number of SIDS cases with causative mutation | Genes | Mutations |
|---|---|---|---|---|---|
| Kato et al./2014 [23] | Case–control | 7 | 4 | SCN5A | p.N1774D, p.F1486del, p.N406K |
| KCNH2 | p.G628D | ||||
| Tan et al./2010 [24] | Case–control | 292 | 1 (0.3%) | SCN4B | p.S206L* |
| Cheng et al./2009 [25] | Case–control | 292 | 3 (1%) | SNTA1 | p.S287R, p.T372M, p.G460S |
| Cronk et al./2007 [26] | Case–control | 134 | 3 (2.2%) | CAV3 | p.V14L, p.T78M, p.L79R |
| Plant et al./2006 [27] | Case–control | 133 | 7 (5.2%) | SCN5A | p.S1103Y, p.S524Y, p.R689H, p.E1107K |
| Lupoglazoff et al./2004 [28] | Case–control | 23 | 3 (13%) | KCNH2 | p.G604S |
| Ackerman et al./2001 [29] | Case–control | 93 | 2 (2.1%) | SCN5A | p.A997S, p.R1826H |
* Sequence variation is previously unreported and is of the type which may or may not be causative of the disorder