Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome

Libero Santarpia, Daniela Lapa, Salvatore Benvenga

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant familial neoplastic disorder with an estimated birth incidence of approximately 1:36000 live. VHL has intrafamilial variability expression and it is characterized by the predisposition to develop hemangioblastomas of the central nervous system and retina, pheochromocytomas, clear-cell renal carcinoma, adenomas, and carcinomas of the pancreas, paragangliomas, renal and pancreatic cysts, papillary cystadenomas of the epididymis and, rarely, cystadenomas of the endolymphatic sac tumor and broad ligament. We describe a Sicilian girl with type 2C VHL who showed the apparently de novo mutation R161Q in association with an extra-axial supratentorial frontal meningioma, which can be included as a characteristic sign in VHL.

Original languageEnglish
Title of host publicationAnnals of the New York Academy of Sciences
Pages198-202
Number of pages5
Volume1073
DOIs
Publication statusPublished - Aug 2006

Publication series

NameAnnals of the New York Academy of Sciences
Volume1073
ISSN (Print)00778923
ISSN (Electronic)17496632

Keywords

  • Genotype-phenotype
  • Meningioma
  • Mutation detection
  • Tumor suppressor gene
  • VHL gene

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Santarpia, L., Lapa, D., & Benvenga, S. (2006). Germline mutation of von Hippel-Lindau (VHL) gene 695 G>A (R161Q) in a patient with a peculiar phenotype with type 2C VHL syndrome. In Annals of the New York Academy of Sciences (Vol. 1073, pp. 198-202). (Annals of the New York Academy of Sciences; Vol. 1073). https://doi.org/10.1196/annals.1353.021