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- Title
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification.
- Authors
Hes, F. J.; van der Luijt, R. B.; Janssen, A. L. W.; Zewald, R. A.; de Jong, G. J.; Lenders, J. W.; Links, T. P.; Luyten, G. P. M.; Sijmons, R. H.; Eussen, H. J.; Halley, D. J. J.; Lips, C. J. M.; Pearson, P. L.; van den Ouweland, A. M. W.; Majoor-Krakauer, D. F.
- Abstract
The current clinical diagnosis of Von Hippel-Lindau (VHL) disease demands at least one specific a sporadic VHL manifestation in a patient with familial VHL disease, or, in asporadic patient, at least two or more hemangioblastomas or a single hemangioblastoma in combination with a typical visceral lesion. To evaluate this definition, we studied the frequency of germline VHL mutation in three patients groups: (i) multi-organ involvement (classic VHL), (ii) limited VHL manifestations meeting criteria (non-classic VHL) and (iii) patients with VHL-associated tumors not meeting current diagnostic VHL criteria. In addition, we validated multiplex ligation-dependent probe amplification (MLPA) as a rapid and reliable quantitative method for the identification of germline VHL deletions. The frequency of germline VHL mutations was very high in classic VHL cases with multi-organ involvement (95%), lower in non-classic cases that meet current diagnostic criteria but have limited VHL manifestations or single-organ involvement (24%) and low (3.3%), but tangible in cases not meeting current diagnostic VHL criteria. The detection of germline VHL mutations in patients or families with limited VHL manifestations, or single-organ involvement is relevant for follow-up of probands and early identification of at-risk relatives.
- Subjects
GENETIC mutation; NUCLEOTIDE sequence; DNA; GENETICS; GENES; PHENOTYPES; GENOTYPE-environment interaction
- Publication
Clinical Genetics, 2007, Vol 72, Issue 2, p122
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2007.00827.x