[Von Hippel-Lindau disease and molecular genetic diagnosis]

Von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disorder, characterized by cysts and neoplastic formations mainly in the cerebellum, retina, pancreas, kidneys and adrenal glands. The disease is subdivided into two groups depending on absence or presence of phaeochromocytomas. VHL is caused by changes in a tumour suppressor gene, which was cloned in 1993 after having been mapped to chromosome 3p25-26 in 1988. We present two cases with VHL type 1. The first patient belonged to a family with 24 verified affected members, the second was the descendent of a patient carrying a presumed de novo mutation. By direct sequencing of the VHL gene, the mutation was identified in both families, thus enabling preclinical diagnosis of persons at risk in the families.