Tab. 1.
Summary of molecular autopsy series in autopsy-negative sudden unexplained death (arranged from the smallest to the largest case series published)
| Reference | Year pub lished |
Number of cases |
Age range (years) |
Males/ females |
Genes ana lyzed |
Number of mutations (% yield) |
DNA source |
Mutation analysis technique |
|---|---|---|---|---|---|---|---|---|
| Creighton [11] | 2008 | 9 | 1–43 | 5M/4F | KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, RYR2 (target) | 1 KCNQ1,2RYR2(33%) | Frozen tissue | Direct DNA sequencing |
| Di Paolo [13] | 2004 | 10 | 13–29 | 5M/5F | LQTS genes | 2KCNQ1 (20%) | FF-PET | SSCP |
| Chug [9] | 2004 | 12 | N/A | N/A | KCNQI, KCNH2, SCN5A, KCNE1, KCNE2 | 2KCNH2(17%) | FF-PET | SSCP/direct DNA sequencing |
| Nishio [26] | 2009 | 17 | 12–42 | 13M/4F | KCNQI, KCNH2, SCN5A, RYR2 (target) | 1 KCNQ1,3RYR2(24%) | Autopsy blood | High-resolution melt |
| Gladding [17] | 2010 | 18 | 2–39 | 11 M/7 F | KCNQI, KCNH2, SCN5A, KCNE1, KCNE2 | 2KCNQ1,2KCNH2(22%) | Guthrie (blood spot) card | DHPLC |
| Skinner [31] | 2011 | 33 | 1–40 | 24M/9F | KCNQI, KCNH2, SCN5A, KCNE1, KCNE2 | 1 KCNQ1,1 KCNH2, 1 SCN5A, 2KCNE1(15%) | Frozen tissue or autopsy blood | DHPLC |
| Doolan [14] | 2008 | 59 | 1–35 | 38M/21 F | KCNQI, SCN5A (target) | 0(0%) | FF-PET | DHPLC |
| Tester [34,36,37] | 2004, 2007, 2011 | 173 | 1–43 | 106M/67F | KCNQI, KCNH2, SCN5A, KCNE1, KCNE2, RYR2 (target) | 11 KCNQ1, 6KCNH2, 6 SCN5A, 2KCNE2, 20RYR2 (26%) | Frozen tissue or autopsy blood | DHPLC |
N/A not available, M male, F female, FF-PET formalin-fixed paraffin-embedded tissue, SSCP single-stranded confirmation polymorphism, DHPLC denaturing high-performance liguid chromatography