title: [Identification of a de novo mutation in a patient without von Hippel-Lindau syndrome: clinical and diagnostic implications].
abstract: Von Hippel-Lindau (VHL) disease is characterized by a high predisposition to develop retinal angiomas, hemangioblastomas of the central nervous systems, renal cysts and renal carcinomas, pheochromocytomas, pancreatic cysts, and cystadenomas of the epididymis. The VHL gene was isolated in 1993; this fact allows to carry out presymptomatic diagnostic of this disease. We report on the case of patient with the suspicious++ and of hereditary VHL, although she had not familial history. By means of sequence the VHL gene was studied a mutation in exon 2 (GTT130CTT) that results in an amino acid change was found. This mutation could not be detected in her parents, pointing out that this is a de novo case. Patient has two sons, of 18 and 13 years old. The genetic analysis of the youngest showed that he was not a mutation carrier; while the eldest denied to be explored. The genetic study allows, in cases without familial history, to determine if they have the hereditary form of the disease and to study the siblings periodically until the beginning of the disease.
authors.affiliation: Departamento de Genética, Fundación Jiménez Díaz, Madrid. mrobledo@uni.fdj.es
authors.forename: A
authors.initials: A
authors.lastname: Cebrián
authors.forename: P
authors.initials: P
authors.lastname: Ruiz Barnés
authors.forename: A
authors.initials: A
authors.lastname: Osorio
authors.forename: B
authors.initials: B
authors.lastname: Martínez-Delgado
authors.forename: J
authors.initials: J
authors.lastname: Benítez
authors.forename: M
authors.initials: M
authors.lastname: Robledo
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D006623:von Hippel-Lindau Disease / Q000175:diagnosis* / Q000235:genetics*