Table 4

Summary of population screening studies of long QT syndrome
Splawskiet al. 2000 Tester et al. 2005 Tester et al. 2005a Napolitano et al. 2005 Berge et al. 2008 Kapplinger et al. 2009 This study
Number of unrelated index cases (n) 262 541 430 169 2500 200
Detection rate (%) All cases/more stringent criteria (*Schwartz score ≥ 4) 51 50/72* 72 32/71 36 52
Novel mutations (%) 60 59 59 54 60 28
Multiple mutations (%) - 10 5 0 9 4
Mutated gene: KCNQ1 (%) 39 42 49 43 43 58
KCNH2 (%) 51 42 39 46 32 24
SCN5A (%) 6 15 10 9 13 13
KCNE1 (%) 2 0.5 2 2 3 1
KCNE2 (%) 2 0.5 1 - 1 1
RYR2 (%) - - 269/6a - - 41/17 - 3 36/8
RYR2 (n/%)
Mutation type: Missense (%) 72 73 72 65 70 70
Nonsense (%) 6 6 5 14 6 8
In-frame ins/del (%) 5 2 14 3 3 5
Frame shift (%) 10 12 6 13 15 12.5
Splice site (%) 7 6 3 5 6 1.5
Large ins/del (%) - - - - - 3
Mutation region: N-terminal (%) 22 16 8 22 8 25
Transmembrane (%) 54 49 64 54 57 47
C-terminal (%) 24 35 28 24 35 28

Stattin et al.

Stattin et al. BMC Cardiovascular Disorders 2012 12:95   doi:10.1186/1471-2261-12-95

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