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

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 clin...

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Autores principales: Kinyas, S, Ozal, SA, Guclu, H, Gurlu, V, Esgin, H, Gurkan, H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026270/
https://www.ncbi.nlm.nih.gov/pubmed/27785399
http://dx.doi.org/10.1515/bjmg-2015-0087
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author Kinyas, S
Ozal, SA
Guclu, H
Gurlu, V
Esgin, H
Gurkan, H
author_facet Kinyas, S
Ozal, SA
Guclu, H
Gurlu, V
Esgin, H
Gurkan, H
author_sort Kinyas, S
collection PubMed
description 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 involve-ment in both cases, and also central nervous system (CNS) involvement in one case, in addition to RH.
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spelling pubmed-50262702016-10-26 Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family Kinyas, S Ozal, SA Guclu, H Gurlu, V Esgin, H Gurkan, H Balkan J Med Genet Case Report 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 involve-ment in both cases, and also central nervous system (CNS) involvement in one case, in addition to RH. De Gruyter 2016-07-09 /pmc/articles/PMC5026270/ /pubmed/27785399 http://dx.doi.org/10.1515/bjmg-2015-0087 Text en © 2016 Walter de Gruyter GmbH, Berlin/Boston
spellingShingle Case Report
Kinyas, S
Ozal, SA
Guclu, H
Gurlu, V
Esgin, H
Gurkan, H
Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
title Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
title_full Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
title_fullStr Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
title_full_unstemmed Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
title_short Von Hippel-Lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
title_sort von hippel-lindau disease: the clinical manifestations and genetic analysis results of two cases from a single family
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5026270/
https://www.ncbi.nlm.nih.gov/pubmed/27785399
http://dx.doi.org/10.1515/bjmg-2015-0087
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