Title
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Berlin ,
Subject
Human medicine
Source (journal)
Human genetics. - Berlin
Volume/pages
106(2000) :4 , p. 425-431
ISSN
0340-6717
ISI
000087063200007
Carrier
E
Target language
Dutch (dut)
Full text (Publishers DOI)
Abstract
Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct sequencing of the coding region of the VHL gene had failed to identify the family-specific mutation. Further molecular analysis revealed deletions involving the VHL gene in each of these families. In four families, partial deletions of one or more exons were detected by Southern blot analysis. In the fifth family, FISH analysis demonstrated the deletion of the entire VHL gene. Our results show that (quantitative) Southern blot analysis is a sensitive method for detecting germline deletions of the VHL gene and should be implemented in routine DNA diagnosis for VHL disease. Our data support the previously established observation that families with a germline deletion have a low risk for pheochromocytoma. Further unraveling of genotype-phenotype correlations in VHL disease has revealed that families with a full or partial deletion of the VHL gene exhibit a phenotype with a preponderance of central nervous system hemangioblastoma.
E-info
https://repository.uantwerpen.be/docman/iruaauth/91e2e1/8f1b706168d.pdf
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