VON HIPPEL-LINDAU DISEASE: THE CLINICAL
MANIFESTATIONS AND GENETIC ANALYSIS RESULTS
OF TWO CASES FROM A SINGLE FAMILY
Kinyas S1, Ozal SA1,*, Guclu H1, Gurlu V1, Esgin H1, Gurkan H2
*Corresponding Author: Dr. Sadık Altan Ozal, Trakya Üniversitesi Tıp Fakültesi, Göz Hastalıkları Anabilim
Dalı, Edirne 22030, Turkey. Tel: +90-505-450-42-67. Fax: +90-284-223-55-06. E-mail: altanozal@hotmail.com
page: 65
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Abstract
von Hippel-Lindau (VHL) disease is an autosomal
dominant inherited multi systemic cancer syndrome
that is classically associated with neoplasms
in multiple organs, and caused by mutations in the
VHL gene on chromosome 3p25-p26. Retinal hemangioblastoma
(RH) is the most frequent and the
earliest clinical sign of the disease, which is seen in
40.0-60.0% of patients. In recent years, studies of
patients with VHL tried to put forward the relationship
between genotype and phenotype. In this study,
two VHL cases in the same family with clinical findings
and genetic analysis results are presented. As a
consequence of the genetic studies, a heterozygous
missense mutation c.202 T>C, p.S68P (Ser68Pro)
in exon 1 of the VHL gene that is mapped to chromosome
3p25.3, was found in the patients’ DNA
sample. The germline mutation of [c.202T>C, p.S68P
(Ser68Pro)] that was detected in both cases, has been
reported in only two cases in the literature. However,
in these reported cases, any systemic involvement
except RH, were not reported. Although our cases
had the same mutation, we detected renal involvement
in both cases, and also central nervous system
(CNS) involvement in one case, in addition to RH.
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