1 | M (24) | Yes | 3 | 6 (81) | Yes (44) | No | No | c.510C>G; p.Tyr170X |
2 | F (20) | Yes | 8 | 13 (84) | No | No | No | c.610_611delGCinsTA p.Ala240X |
3 | M (62) | No | | 10 (100) | NA | NA | NA | Not tested |
4 | M (75) | No | | 3 (100) | Yes (74) | NA | NA | Not tested |
5 | M (20) | Yes | 2 | 3 (67) | NA | NA | NA | Not tested |
6 | M (29) | No | | 4 (75) | NA | NA | NA | Not tested |
7 | F (52) | No | | 35 (52) | NA | NA | No | Not tested |
Patient with BHD syndrome (family) | Sex (age at first PSP years) | Delay between first symptom of PSP and final diagnosis of BHD (months) | Recurrence of PSP | Recurrences of PSP n | Lung cysts n | Renal tumour | FF | Smoking history | FLCN mutation |
1 (84) | F (20) | 243 | Yes | 8 | 13 | No | Minimal¶ | No | c.610_611delGCinsTA (p.Ala240X) |
2 (85) | M (26) | 153 | Yes | 6 | 140 | No | Minimal¶ | No | c.1408_1418del (p.Gly470fs) |
3 (94) | M (40) | 81 | Yes | 3 | 74 | No | No | No | c.1539-2A>G |