Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
نویسندگان
چکیده
منابع مشابه
Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
von Hippel-Lindau (VHL) disease is caused by mutations in the VHL gene and demonstrates marked phenotypic variability. Genotype-phenotype correlations in Chinese VHL patients have been unclear. To establish genotype-phenotype correlations in Chinese VHL patients, we collected VHL mutations and phenotypes of 291 patients with VHL disease from 115 unrelated families. Genotype-phenotype correlatio...
متن کاملGenotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis.
OBJECTIVES To characterize the germline mutations found in a large population of persons having von Hippel-Lindau (VHL) disease mutations with the clinical characteristics of associated retinal capillary hemangioblastomas (RCHs), to measure the prevalence of RCHs among patients with VHL disease generally and specifically for each genotype category, to establish genotype-phenotype correlations b...
متن کاملGenotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype.
PURPOSE von Hippel-Lindau (VHL) disease is a dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. This study was conducted to establish genotype-phenotype correlations between the positions of disease-causing missense mutations and the ocular phenotypes of VHL disease. METHODS Participants with clinically defined VHL disease and documented germline missense ...
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A family with von Hippel-Lindau disease (VHL) type 2A has been shown to have a T to C missense mutation at nucleotide 547 of the VHL gene. This gives further support for the proposal to associate the 547 T to C mutation with phenotype VHL 2A.
متن کاملMosaicism in von Hippel-Lindau disease with severe renal manifestations.
von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection o...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2004
ISSN: 1059-7794
DOI: 10.1002/humu.20109