Table 1. Gene Burden analysis.
Disruptive mutations (stop-gain, frameshift) | Damaging mutations (disruptive, predicted-damaging, splice acceptor/donors | All coding non-synonymous variants | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Gene | Previously Reported | Cases | Control | PFisher | Cases | Control | PFisher | Cases | Control | PFisher |
BUB1 | Disruptive | 0 | 4 | 0.31 | 1 | 8 | 0.17 | 18 | 30 | 0.76 |
BUB3 | Missense | 0 | 2 | 0.55 | 0 | 4 | 0.31 | 1 | 5 | 0.67 |
FAN1 | Disruptive /Missense | 0 | 2 | 0.55 | 15 | 17 | 0.19 | 32 | 45# | 0.23 |
FANCM | Disruptive /Missense | 5 | 1 | 0.02 | 23 | 33 | 0.33 | 51$ | 67$ | 0.06 |
LRP6 (BPD*) | Missense | 0 | 0 | - | 6 (4) | 17 (13) | 0.51 (0.45) | 17 (8) | 37 (21) | 0.67 |
PTPN12 | Missense | 0 | 1 | 1.00 | 6 | 5 | 0.21 | 12 | 9 | 0.04 |
RPS20 | Disruptive | 1 | 0 | 0.35 | 2 | 0 | 0.12 | 2 | 0 | 0.12 |
TP53 | Missense | 1 | 0 | 0.35 | 1 | 1 | 1.00 | 1 | 4 | 0.66 |
Number of variants within β-Propellor domain. All 3 variants identified by de Voer et al were within BPD.
Total number of variants in controls = 46; 1 sample has 2 FAN1 missense
Totals number of variants in cases = 52, in controls =69; 3 samples have 2 FANCM missense