Table 1 Summary of clinical and genetic findings
Family | Patients | RCC | CNS HB | Phaeo | RA | VHL disease type | germline mutation | localisation | novel mutation | Predicted protein modification | SIFT analysis |
|---|---|---|---|---|---|---|---|---|---|---|---|
A | IP | 15 | - | - | 15 | 1 | c.163 G > T | exon 1 | yes | p.Glu55X | NA |
B | IP | - | 48 | - | 48 | 1 | c.232A > T | exon 1 | yes | p.Asn78Tyr | damaging |
Brother | - | 45 | - | 45 | 1 | c.232A > T | exon 1 | yes | p.Asn78Tyr | damaging | |
C | IP | 14 | - | 12 | 1 | c.340 + 1 G > A | intron 1-2 | no | p.Gly114AspfsX6 | NA | |
Father | 34, bilateral | 34 | - | 38 | 1 | c.340 + 1 G > A | intron 1-2 | no | p.Gly114AspfsX6 | NA | |
D | IP | 25 | 25 | - | - | 1 | c.555C > A | exon 3 | yes | p.Tyr185X | NA |
E | IP | - | 41 | - | 41 | 1 | c.583C > T | exon 3 | no | p.195GlnX | NA |