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VHL2C Phenotype in a German von Hippel-Lindau Family with Concurrent VHL Germline Mutations P81S and L188V

Institute of Pathology (G.W.), Technische Universität München, D-81675 Munich; Wilex Biotechnology GmbH (T.W.), D-81675 Munich; Medical Department II (D.E.), Klinikum Grosshadern, University of Munich, D-81366 Munich; and Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology (B.K., H.B.), D-70376 Stuttgart, Germany

Address all correspondence and requests for reprints to: Dr. Hiltrud Brauch, Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Auerbachstrasse 112, D-70376 Stuttgart, Germany. E-mail: hiltrud.brauch{at}ikp-stuttgart.de.

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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