[Genetic analysis of a family with Von Hippel-Lindau syndrome]

Abstract

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant inherited disease associated with mutations in the VHL tumour suppressor gene located on chromosome 3p25. VHL is characterized by the development of multiple malignant and benign tumours in the central nervous system and internal organs, including liver, pancreas and the adrenal gland. More than 823 different mutations of the VHL gene have currently been identified. In the present study we describe the case of a family affected by VHL treated at the University Hospital of La Ribera and the results of the genetic analysis of three relatives, identifying the mutation R167G in exon 3 of VHL gene as the cause of VHL syndrome in this family.

Keywords: Análisis genético; Genetic analysis; Genotype-phenotype relationship; Relación genotipo-fenotipo; Síndrome de Von Hippel-Lindau; Von Hippel-Lindau syndrome.