Table 1 Long QT syndrome as a causative factor of SIDS and implicated mutations—Broad genetic studies
Study/year | Study type | Total number of cases | Number of SIDS cases with causative mutation | Genes | Mutations |
|---|---|---|---|---|---|
Wang et al./2014 [18] | Case–control | 141 | 19 (13.4%) | SCN5A | p.L618F, p.P1011L*, p.A1100V, p.T1131I, p.T1304M, p.M1487L, p.Q1832E, p.R1944X*, p.D501G, p.A662S*, p.A997D*, p.A1106S*, p.S1285G*, p.A149V*, p.E1890K* |
KCNQ1 | p.Y51C*, p.P99R*, p.N593K* | ||||
KCNH2 | p.D982N* | ||||
KCNE2 | p.M54T | ||||
Glengarry et al./2014 [19] | Case–control | 102 | 4 (3.9%) | SCN5A | p.I759F, p.F1522Y* |
KCNH2 | p.R1047L | ||||
KCNQ1 | p.E146K | ||||
Horigome et al./2010 [20] | Case–control | 58 | 12 near SIDS (20.6%) | SCN5A | p.V176M, p.N406K, p.R1623Q, p.L1772V |
KCNH2 | p.A561V, p.G628S, p.T613M, p.G572S, p.A614V, p.N633S | ||||
KCNQ1 | p.G643S, p.G269S | ||||
Millat et al./2009 [21] | Case–control | 32 | 5 (15.6%) | SCN5A | p.R975W, p.Q692K, p.S1333Y |
KCNH2 | p.R148W | ||||
KCNQ1 | p.G626S | ||||
KCNE1 | p.T20I | ||||
Otagiri et al./2008 [22] | Case–control | 42 | 4 (9.5%) | SCN5A | p.G1084S, p.F1705S, p.F532C |
KCNH2 | p.T895M | ||||
KCNQ1 | p.K598R | ||||
Arnestad et al./2007 [2] | Case–control | 201 | 19 (9.4%) | SCN5A | p.S216L, p.A586_L587del, p.R680H, p.T1304M, p.F1486L, p.V1951L, p.F2004L, p.P2006A |
KCNH2 | p.R273Q, p.R954C, p.K897T | ||||
KCNQ1 | p.G460S | ||||
KCNE2 | p.Q9E | ||||
CAV3 | p.T78M |