Studies selected for pooled analyses. Frequency of mutations in each sarcomere gene and sequencing methodology for each study
| Cohort | N patients | N genes | Sarcomeric positive (%) | MYBPC3 (%) | MYH7 (%) | TNNT2 (%) | TNNI3 (%) | MYL2 (%) | MYL3 (%) | ACTC1 (%) | TPM1 (%) | Sequencing methodology |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Richard et al35 | 197 | 9 | 63 | 26.4 | 25.4 | 4 | 4 | 2.5 | 0.5 | 0 | 0 | SSCP+DS |
| Morner et al36 | 46 | 8 | 28 | 20 | 2.2* | 0 | 2.2 | 2.2 | 0 | 0 | 0 | SSCP /DHPLC |
| Erdmann et al37 | 108 | 6 | 33.3 | 18.5 | 13* | 0.9 | 0.9 | – | – | – | 0.9 | SSCP+DS or RFLP |
| Van Driest et al38–41 | 389 | 8 | 37.7 | 18.2 | 14.9 | 2.3 | 1.3 | 1.8 | 0 | 0.3 | 0.8 | DHPLC+DS |
| Olivotto et al42 | 203 | 8 | 62 | 34 | 17 | 3.5 | 0.49 | 3.5 | 0.49 | 0.99 | DHPLC+DS+RFLP | |
| Garcia-Castro et al43 | 120 | 5 | 26.7 | 16 | 8 | 0.8 | 0 | 0.8 | DS | |||
| Andersen et al44 | 90 | 11 | 36 | 10 | 10 | 2.2 | 2.2 | 1.1 | 1.1 | 1.1 | SSCP+DS | |
| Laredo et al+Rodriguez-Garcia et al45 46 | 130 | 2 | 23 | 15 | 8 | – | – | – | – | – | – | SSCP+DS+RFLP |
| Millat et al47 | 192 | 4 | 48 | 25 | 12 | 3.1 | 3.1 | – | – | – | – | DHPLC+DS |
| Waldmuller et al48 | 236 | 2 | 41 | 24 | 17 | – | – | – | – | – | – | DS |
| Brito et al49 | 77 | 5 | 53 | 35 | 11.7 | 6.5 | 2.6 | 0 | – | – | – | DS |
| Gruner et al50 | 471 | 8 | 35 | 14.9 | 13.6 | 2.3 | 0.85 | 0.2 | 0.6 | 0.4 | 0.64 | DS |
| Zou et al51 | 200 | 8 | 51 | 18 | 26 | 4 | 3.5 | 1 | 1.5 | 1.5 | 1.5 | DS |
*Indicates that only part of the gene was sequenced.
DHPLC, denaturing high performance liquid chromatography DS, direct sequencing; RFLP, restriction fragment length polymorphism; SSCP, single strand conformation polymorphism.