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Table 1 Long QT syndrome as a causative factor of SIDS and implicated mutations—Broad genetic studies

From: Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence

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
  1. * Sequence variation is previously unreported and is of the type which may or may not be causative of the disorder