Türk Nöroşirürji Dergisi 2010 , Vol 20 , Num 3
VHL Gene Mutations in Two Families with Von Hippel-Lindau Disease
Fatih BAYRAKLI1, Erdoğan AYAN2, Bekir AKGÜN3, Gülflah KOÇ4, İlter GÜNEY5, İlhan ELMACI6
1Cumhuriyet Üniversitesi, Tıp Fakültesi, Nöroşirürji Anabilim Dalı, Sivas, Türkiye
2Haydarpaşa Numune Hastanesi, Nöroşirürji Kliniği, İstanbul, Türkiye
3Fırat Üniversitesi, Nöroşirürji Anabilim Dalı, İstanbul, Türkiye
4,5Marmara Üniversitesi, Tıp Fakültesi, Tıbbi Genetik Anabilim Dalı, İstanbul, Türkiye
6İstanbul Göztepe Eğitim ve Araştırma Hastanesi, Nöroşirürji Kliniği, İstanbul, Türkiye
AIM: To investigate the correlation between the clinical and genetic features of the two Turkish families with von Hippel-Lindau (VHL) disease.

MATERIAL and METHODS: The probands in two Turkish families with familial posterior fossa hemangioblastoma were clinically evaluated and followed up. Genomic DNA extracted from the peripheral blood of probands was amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.

RESULTS: In family one the nonsense mutation of 473T>C (Leu158Pro) in exon 3 and in family two the nonsense mutation of 340G>A (Gly114Ser) in exon 1 of VHL gene was detected in the probands. In the medical history of both families, the probands and their mother in family one and father in family two were found to have cerebellar hemangioblastomas.

CONCLUSION: VHL disease should be suspected in some patients with familial cerebellar hemangioblastoma, and VHL gene screening helps to achieve early diagnosis of the disease. Although strong genotype phenotype correlation in VHL disease reported in literature, our results were not supported this notion. Anahtar Kelimeler : Cerebellar hemangioblastoma, VHL disease, VHL gene