In: NEOPLASMA, vol. 54, no. 5
B. Stanojevic - P. Lohse - G. Neskovic - S. Damjanovic - T. Novkovic - S. Jovanovic-Cupic - B. Dimitrijevic
Detaily:
Rok, strany: 2007, 402 - 406
O článku:
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer predisposition syndrome due to germline
mutations in the VHL tumor suppressor gene which is associated with virtually complete penetrance. The VHL syndrome
has a highly variable phenotypic expressivity including retinal and CNS haemangioblastomas, pheochromocytomas,
renal clear cell carcinomas, and multifocal cysts. In order to establish VHL gene testing, we analyzed three families
affected by VHL disease, using SSCP mutation screening and DNA sequencing. Among 18 family members with and
without clinical manifestations, eight cases with germline VHL mutations were detected. In family A, a c.490G>T/
p.Gly93Cys substitution was found. In family B, with pheochromocytoma only phenotype, we detected a previously not
described c.463G>A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed. Affected
members of the third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange. All these mutations
were located in exon 1 of the VHL tumor suppressor gene. Alterations in this hydrophobic region of the core β domain of
the VHL protein are known to have a variety of phenotypic consequences. We observed also intrafamiliar variation in
time of onset and severity of the disease.
Key words: VHL gene, germline mutations, VHL syndrome, prenatal diagnosis
Ako citovať:
ISO 690:
Stanojevic, B., Lohse, P., Neskovic, G., Damjanovic, S., Novkovic, T., Jovanovic-Cupic, S., Dimitrijevic, B. 2007. Germline VHL gene mutations in three Serbian families
with von Hippel-Lindau disease. In NEOPLASMA, vol. 54, no.5, pp. 402-406. 0028-2685.
APA:
Stanojevic, B., Lohse, P., Neskovic, G., Damjanovic, S., Novkovic, T., Jovanovic-Cupic, S., Dimitrijevic, B. (2007). Germline VHL gene mutations in three Serbian families
with von Hippel-Lindau disease. NEOPLASMA, 54(5), 402-406. 0028-2685.