title: [Genetic study of a new family with Hippel-Lindau type IIB disease].
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Servicio de Endocrinología, Hospital Universitari Germans Trias i Pujol, Badalona.
authors.forename: G
authors.initials: G
authors.lastname: Cuatrecasas
authors.forename: J
authors.initials: J
authors.lastname: Oriola
authors.forename: M L
authors.initials: ML
authors.lastname: Granada
authors.forename: R
authors.initials: R
authors.lastname: Florensa
authors.forename: I
authors.initials: I
authors.lastname: Salinas
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D012720:Severity of Illness Index; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics*
vernacular_title: Estudio genético de una nueva familia con la enfermedad de Von Hippel-Lindau tipo IIB.