Of 31 Brazilian patients, one was found to harbour the c.309_322del14(p.G104Hfs*23) mutation of the VHL gene. Genomic DNA was extracted and all VHL coding regions were analyzed by Sanger sequencing. MLPA was performed to investigate large deletions using SALSA® MLPA® P016 VHL probe mix. Data analysis was performed with Genescan 3.7. This patient, age 15, presented with renal and pancreatic cysts, CNS and retinal hemangioblastoma. It is not clear if this mutation is familial.