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Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central EuropeGlavač, Damjan ...Von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma and ... pancreatic tumors. Clinicallytwo types of the disease can be distinguished: VHL type 1 (without pheochromocytoma) and VHL type 2 (with pheochromocytoma). We report VHL germline mutations and trends in phenotypic variation in families from centralEurope. We identified 28 mutations in 53/65 (81.5 percent) families with 18 (64 percent) mutations being unique to this population. Whereas types and distribution of mutations as well as a strong correlation of missense mutations with the VHL 2 phenotype were similar to those identified in other populations, these families have provided new insights into the molecular basis for variability in the VHL 2 phenotype. Seven different missense mutations in exons 1 and 3 varied in their biological consequences from a minimal VHL 2 phenotype with pheochromocytoma only to a full VHL 2 phenotype with RCC and pancreatic lesion. These findings contribute to a better understanding of the fundamental mechanisms of VHL disease and its phenotypic variability. Further, we have provided rapid VHL screening for the families incentral Europe, which has resulted in improved diagnosis and clinical management.Vir: Human genetics. - ISSN 0340-6717 (Letn. 98, št. 3, 1996, str. 271-280)Vrsta gradiva - članek, sestavni delLeto - 1996Jezik - angleškiCOBISS.SI-ID - 7565785
Avtor
Glavač, Damjan |
Neumann, Hartmut PH |
Wittke, Claudia |
Jaenig, Hendrik |
Mašek, Otakar |
Streicher, Teodor |
Pausch, Friederike |
Engelhardt, Dieter |
Plate, Karl H |
Hoefler, Heinz |
Chen, Fan |
Zbar, Berton |
Brauch, Hiltrud
Teme
Genes, suppressor, tumor |
Germ-line mutation |
Hippel-lindau disease |
Genetics |
Diagnosis |
Ethnology |
Epidemiology |
Base sequence |
Dna mutational analysis |
Dna primers |
Europe |
Epidemiology |
Genotype |
Heterozygote detection |
Molecular sequence data |
Pedigree |
Phenotype
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Glavač, Damjan | 09275 |
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