Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family

• Published in: Balkan journal of medical genetics Vol. 18; no. 2; pp. 65 - 70
• Main Authors: Kinyas, S, Ozal, SA, Guclu, H, Gurlu, V, Esgin, H, Gurkan, H
• Format: Journal Article
• Language: English
• Published: Macedonia De Gruyter 01.12.2015; De Gruyter Poland; Sciendo
• Subjects: Central nervous system (CNS) hemangioblastoma; Germline mutation; Renal cell carcinoma; Retinal hemangioblastoma (RH); von Hippel-Lindau (VHL) disease; Germline mutation; Retinal hemangioblastoma (RH); von Hippel-Lindau (VHL) disease; Renal cell carcinoma; Central nervous system (CNS) hemangioblastoma
• ISSN: 1311-0160; 2199-5761; 1311-0160
• DOI: 10.1515/bjmg-2015-0087

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 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 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 involve-ment in both cases, and also central nervous system (CNS) involvement in one case, in addition to RH.