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Table 2 Long QT syndrome as a causative factor of SIDS and implicated mutations—Genetic studies focusing on one single or two genes

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