Table 3.
Germline VHL mutations in probands/family member affected patient
| Patient | Proband/familiar (P/F) | Exon/intron | Mutation type | Mutation cDNA | Mutation p. protein | Phenotype |
|---|---|---|---|---|---|---|
| 1 | P | Exon 1 | Deletion | c.227_229delTCT | p. Phe76del | HBA CNS, PanNET |
| 2a | P | Exon 1 | Missense | c.233A>G | p. Asn78Ser | RCC, HBA CNS/Ret, Pan-Cyst, PanNET |
| 2b | F | “ | “ | “ | “ | PPGL, HBA CNS/Ret, RCC, PanNET |
| 4 | P | Exon 1 | Missense | c.245G>T | p. Arg82Leu | Pheo, HBA CNS, PanNET |
| 5a | P | Exon 1 | Missense | c.332G>A | p. Ser111Asn | HBA CNS, Pan/Kid-Cysts |
| 5b | F | “ | “ | “ | “ | RCC, Pan/Kid-Cysts |
| 7 | P | Intron 1 | Splice site | c. 341-3T>G | / | HBA CNS, Metastatic PanNET |
| 8 | P | Exon 1 | Missense | c.340G>C | p. Gly114Arg | HBA Ret, PanNET |
| 9 | P | Exon 3 | Nonsense | c.481C>T | p. Arg161Ter | Pan/Kid-Cysts, RCC |
| 10a | P | Exon 3 | Missense | c.499C>T | p. Arg167Trp | Pheo, PPGL, HBA CNS/Ret, PanNET, Liver Metastasis |
| 10b | F | “ | “ | “ | “ | Pheo, PPGL, HBA Ret, PanNET |
| 10c | F | “ | “ | “ | “ | RCC, HBA CNS, RCC, PanNET |
| 10d | F | “ | “ | “ | “ | / |
| 14 | P | Exon 3 | Missense | c.499C>T | p. Arg167Trp | Pheo, HBA CNS, PanNET |
| 15 | P | Exon 3 | Missense | c.500G>A | p. Arg167Gln | PPGL, Metastatic PanNET |
| 16 | P | Exon 3 | Missense | c.500G>A | p. Arg167Gln | HBA CNS/Ret, PanNET |
HBA CNS/Ret central nervous system/retina haemangioblastoma, PPGL paraganglioma, Pheo pheocromocytoma, PanNET neuroendocrine pancreatic tumor, Pan-Cyst/Kid-Cyst pancreatic/kidney cyst, RCC renal cell carcinoma
/ none, “ same as above