%0 Journal Article
%T Identification of 3 novel VHL germ-line mutations in Danish VHL patients
%A Mette Dandanell
%A Lennart Friis-Hansen
%A Lone Sunde
%A Finn C Nielsen
%A Thomas vO Hansen
%J BMC Medical Genetics
%D 2012
%I BioMed Central
%R 10.1186/1471-2350-13-54
%X VHL mutational analysis was carried out by sequencing of the coding sequence and by multiplex ligation-dependent probe amplification analysis. The functional consequence of the variants was investigated using in silico prediction tools.A total of 289 probands suspected of having VHL syndrome have been screened for mutations in the VHL gene. Twenty-six different VHL mutations were identified in 36 families including one in-frame duplication, two frame-shift mutations, four nonsense mutations, twelve missense mutations, three intronic mutations and four large genomic rearrangements. Three of these mutations (c.319£¿C£¿>£¿T, c.342_343dupGGT and c.520_521dupAA) were novel.In this study we report the VHL germ-line mutations found in Danish families. We found three novel VHL mutations where two were classified as pathogenic and the latter was classified as a variant of unknown significance. Together, our findings contribute to the interpretation of the potential pathogenicity of VHL germ-line mutations.
%K von Hippel-Lindau disease
%K VHL
%K Germ-line mutations
%K Danish population
%U http://www.biomedcentral.com/1471-2350/13/54/abstract