NDLI: Mutation screening of VHL gene in a family with malignant bilateral pheochromocytoma: from isolated familial pheochromocytoma to von Hippel-Lindau disease

Content Provider	Springer Nature Link
Author	Hasani Ranjbar, Shirin Amoli, Mahsa M. Ebrahim Habibi, Azadeh Haghpanah, Vahid Hejazi, Maryam Soltani, Akbar Larijani, Bagher
Copyright Year	2009
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.
Starting Page	465
Ending Page	471
Page Count	7
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	8
Issue Number	4
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2009-08-01
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Familial pheochromocytoma von Hippel-Lindau disease Mutation Pheochromocytomas Biomedicine general Epidemiology Human Genetics Cancer Research
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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