Table 1

Genetic and clinical features of 8 patients with VHL

Clinical features
PatientSexVHL mutationRCC and cystsHemangioblastomasPancreatic cysts
1MLarge deletionBilateralPositive (CNS)Positive
2Fc.499C>T (Q96X)BilateralPositive (retinal)Positive
3Mc.681T>G (Y156X)UnilateralPositive (CNS)Positive
4Mc.341−?_463 +?BilateralPositive (CNS)Positive
5Mc.564G>T (W117C)BilateralPositive (CNS, retinal)Positive
6Fc.464−?_642 +?BilateralPositive (CNS, retinal)Positive
7FLarge deletionBilateralPositive (CNS, retinal)Negative
8Mc.446A>C (N78T)BilateralPositive (CNS)Positive
  • NOTE. The VHL gene mutation position coordinates are according to Genbank submission (NM_000551) and Ensemble Genome Browser (www.ensembl.org).