Case Reports
doi: 10.1210/jc.2002-020651.
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V
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- PMID: 12414898
- DOI: 10.1210/jc.2002-020651
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Case Reports
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V
J Clin Endocrinol Metab.
2002 Nov.
Abstract
Von Hippel-Lindau disease (VHL) is a multitumor syndrome that develops on the basis of germline mutations in the VHL tumor suppressor gene. Genotype-phenotype correlations have helped to stratify the disease into VHL type 1 (without pheochromocytoma) and VHL type 2A, 2B, and 2C (with pheochromocytoma). VHL2C is characterized by a pheochromocytoma-only phenotype. We report on the P81S germline mutation in a German VHL2C family with the previously identified L188V mutation. The concurrent P81S mutation was identified by novel screening approaches including denaturing HPLC and sequencing. We show the co-segregation of these two mutations with the disease and discuss their possible impact on pVHL function and phenotype.
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