VON HIPPEL-LINDAU DISEASE: THE CLINICAL MANIFESTATIONS AND GENETIC ANALYSIS RESULTS OF TWO CASES FROM A SINGLE FAMILY

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridEsgin, Haluk/0000-0002-6611-6132
dc.authoridGUCLU, HANDE/0000-0002-3021-0493
dc.authorwosidOzal, Sadık Altan/B-5123-2019
dc.authorwosidEsgin, Haluk/H-6460-2013
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorKinyas, S.
dc.contributor.authorOzal, S. A.
dc.contributor.authorGuclu, H.
dc.contributor.authorGurlu, V
dc.contributor.authorEsgin, H.
dc.contributor.authorGurkan, H.
dc.date.accessioned2024-06-12T10:56:01Z
dc.date.available2024-06-12T10:56:01Z
dc.date.issued2015
dc.departmentTrakya Üniversitesien_US
dc.description.abstractvon 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.en_US
dc.identifier.doi10.1515/bjmg-2015-0087
dc.identifier.endpage69en_US
dc.identifier.issn1311-0160
dc.identifier.issue2en_US
dc.identifier.pmid27785399en_US
dc.identifier.scopus2-s2.0-84968761487en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage65en_US
dc.identifier.urihttps://doi.org/10.1515/bjmg-2015-0087
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19641
dc.identifier.volume18en_US
dc.identifier.wosWOS:000375181600009en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMacedonian Acad Sciences Artsen_US
dc.relation.ispartofBalkan Journal Of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCentral Nervous System (CNS) Hemangioblastomaen_US
dc.subjectGermline Mutationen_US
dc.subjectRenal Cell Carcinomaen_US
dc.subjectRetinal Hemangioblastoma (RH)en_US
dc.subjectVon Hippel-Lindau (VHL) Diseaseen_US
dc.subjectTumor-Suppressor Geneen_US
dc.subjectRetinal Angiomatosisen_US
dc.titleVON HIPPEL-LINDAU DISEASE: THE CLINICAL MANIFESTATIONS AND GENETIC ANALYSIS RESULTS OF TWO CASES FROM A SINGLE FAMILYen_US
dc.typeArticleen_US

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