title: Familial isolated pheochromocytoma presenting a new mutation in the von Hippel-Lindau gene.
abstract: We report a novel germ-line point mutation in the von Hippel-Lindau (vhl) gene in a family with childhood occurrence of isolated pheochromocytoma. Two members of this family (the father and his son) were affected. The son had bilateral adrenal pheochromocytoma and the father had one adrenal and one extra-adrenal localization. Both patients presented cardiac arrest while exposed to surgical stress and severe hypoglycemia was registered in the son. The outcome was uneventful. A DNA sequence analysis of vhl tumor suppressor gene revealed the L163R mutation. This new mutation may be specifically associated with the von Hippel-Lindau type 2C disease phenotype. Whether this mutation is linked to the metabolic alterations developed by these patients remains to be determined.
authors.affiliation: Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Sansó
authors.forename: Maria C Garcia
authors.initials: MC
authors.lastname: Rudaz
authors.forename: Gloria
authors.initials: G
authors.lastname: Levin
authors.forename: Marta
authors.initials: M
authors.lastname: Barontini
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D000328:Adult; D001120:Arginine; D002648:Child; D005500:Follow-Up Studies; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007930:Leucine; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D017354:Point Mutation; D011519:Proto-Oncogenes / Q000235:genetics; D017422:Sequence Analysis, DNA; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000652:urine
chemical_list: D001120:Arginine; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human; D007930:Leucine