The patient's DNA was extracted from peripheral blood, tested by PCR and cycle sequencing of all three exons and the flanking intronic regions of the VHL gene (ABI3500). Multiple ligase-dependent probe amplification( MLPA) for detection of exonic deletions/duplications within the VHL gene and sequences within the VHL proximal genes (FANCD2, BRK1/C3orf10/HSPC300, IRAK2 and GHRL) were carried out.
Findings: A heterozygous deletion of exon 3 in the VHL gene was detected.
Conclusion: DNA genetic analysis is diagnostic of Von Hippel Lindau syndrome and
Recommendations: Any or all offsprings are at 50% risk of inheriting this pathogenic VHL variant. Regular surveillance for early detection of VHL related tumors is strongly recommended for untested at-risk individuals including children.