Balkan Journal of Medical Genetics

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

INTRODUCTION

von Hippel-Lindau (VHL) (MIM#193300) disease is an autosomal dominant inherited disorder that is classically associated with benign or malignant tumors in multiple organs. The most frequent tumors are retinal hemangioblastoma (RH) and central nervous system (CNS) hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma, pancreatic islet cell tumors and endolymphatic sac tumours [1]. von Hippel-Lindau disease most commonly presents between the ages of 25 and 40, and the prevalence of the disease is 1 in 35000 [2]. Retinal hemangioblastoma is the most frequent neoplasm and the most common clinical sign of the disease; it is seen in 40.0- 60.0% of patients [1]. Retinal hemangioblastomas are benign tumors that may be localized peripherally or juxtapapillary and show a slow-growing pattern [3]. In 1993, mutational inactivation of tumor suppressor genes in chromosome 3p25-p26 were found to be responsible for VHL [4]. The VHL coding sequence is represented in three exons and encodes two VHL proteins [5]. The VHL gene functions as a tumor suppressor gene, and leads to neoplastic transformation when inactivated by the mutation that causes loss of function [6]. As a result of existing studies, many different VHL gene point mutations, recombinations and deletions have been identified. In recent years, studies of patients with VHL have tried to establish the relationship between genotype and phenotype [7]. In this study, two cases of VHL from a single family are presented with renal and CNS involvement in addition to RH, which were not presented in this kind of mutation.

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