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 |
Numbers indicate patients’ age at detection of the corresponding VHL tumor. IP Index patient, RCC Clear cell renal cell carcinoma, CNS HB Central nervous system haemangioblastoma, Phaeo: phaeochromocytoma, RA Retinal angioma, NA Non-applicable.