title: Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease.
abstract: von Hippel-Lindau (vHL) disease is an inherited, autosomal dominant syndrome manifested by a variety of benign and malignant tumors. More than 300 germline VHL mutations have been identified that are involved in VHL disease. A large family (four generations) was evaluated. In this paper we report the presence of a single nucleotide mutation in exon 3 of VHL gene c499 C>T causing substitution of Arginine by Tryptophan at position 167 (R 167 W). It was detected in a family with bilateral malignant pheochromocytoma who has been followed for at least 9 years as RET negative isolated familial pheochromocytoma, finally diagnosed as von Hipple-Lindau disease according to retinal angioma and VHL gene mutation. VHL type 2 presenting with both pheochromocytoma and retinal angioma in this family found to be associated with the new missense mutation (c499 C>T) of VHL gene.
authors: Endocrinology and Metabolism Research Centre, Shariati Hospital, Tehran University of Medical Sciences, 14114 Tehran, Iran. shirinhasanir@yahoo.com
authors: Shirin
authors: S
authors: Hasani-Ranjbar
authors: Mahsa M
authors: MM
authors: Amoli
authors: Azadeh
authors: A
authors: Ebrahim-Habibi
authors: Vahid
authors: V
authors: Haghpanah
authors: Maryam
authors: M
authors: Hejazi
authors: Akbar
authors: A
authors: Soltani
authors: Bagher
authors: B
authors: Larijani
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006391:Hemangioma / Q000235:genetics; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020836:Protein Structure, Quaternary; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D019572:Retinal Neoplasms / Q000235:genetics; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000737:chemistry / Q000235:genetics*; D055815:Young Adult; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics*
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human; C497446:VHL protein, human