title: von Hippel-Lindau gene mutation in non-syndromic familial pheochromocytomas.
abstract: Approximately 50% of patients with non-syndromic familial pheochromocytomas had germline von Hippel-Lindau (VHL) gene mutations, but no reports on the subject were available in China. A total of five unrelated Chinese families with non-syndromic familial pheochromocytomas were screened for VHL gene mutation by polymerase chain reaction (PCR) and subsequent direct sequencing. Missense germline mutations of VHL gene were detected in four of the five families. Arg161Gln (695G-A) mutation was found in two families, and the other two families had Leu163Phe (700C-T) and Arg167Trp (712C-T) mutation, respectively. In conclusion, VHL gene may have frequent mutation in Chinese patients with non-syndromic familial pheochromocytomas.
authors.affiliation: Department of Endocrinology, Peking Union Medical College Hospital, 100730 Beijing, China.
authors.forename: An-Li
authors.initials: AL
authors.lastname: Tong
authors.forename: Zheng-Pei
authors.initials: ZP
authors.lastname: Zeng
authors.forename: Han-Zhong
authors.initials: HZ
authors.lastname: Li
authors.forename: Di
authors.initials: D
authors.lastname: Yang
authors.forename: Lin
authors.initials: L
authors.lastname: Lu
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Ya-Ru
authors.initials: YR
authors.lastname: Zhou
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Shi
authors.initials: S
authors.lastname: Chen
authors.forename: Wei
authors.initials: W
authors.lastname: Liang
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D001483:Base Sequence; D004247:DNA; D017931:DNA Primers; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D010673:Pheochromocytoma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*
chemical_list: D017931:DNA Primers; D004247:DNA; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human