[Genetic study of a new family with Hippel-Lindau type IIB disease]

Von Hippel-Lindau disease is characterized by the variable presence of cerebellar and retinal haemangioblastomas, phaeocromocytomas and hypernephromas, beginning at early stages of life. Von Hippel-Lindau gene has been located in the short arm of chromosome 3 (3p25.5) and has been involved in the regulation of DNA transcription acting as a suppressor gene. More than 500 different mutations have been described.

We describe a new family with the type IIB Von Hippel-Lindau disease in which, apart from clinical studies, we performed a genetic screening trying to identify germinal mutations.

So far, we have point out 6 patients with the G-->A transversion at codon 167 (R167Q). Two of them with overt clinical disease (phaeocromocytoma in case II.1 and haemangioblastoma in the II.2) at the beginning of the study and one with a non-suspected clinical presentation (phaeocromocytoma and renal carcinoma in case I.1) out of 8 family members studied in three generations.

The genetic screening in this family permitted us to identify three subjects before their clinical onset. The absence of the mutation in two of the younger patients will simplify the clinical follow-up of this family. Genetic screening must be generalized in the follow-up of Von Hippel-Lindau disease families, because of economic advantages and clinical efficacy.