Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau disease
1 Endocrine Unit, Second Department of Internal Medicne-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, Attikon University Hospital, 1 Rimini Street, Athens, Greece
2 BioGenomica, Center for Genetic Research and Analysis, 4 Papanikoli Street, Athens, Greece
3 Hellenic National Diabetes Center for Research, Prevention and Treatment of Diabetes and its Complications, HNDC, 3 Ploutarchou Street, Athens, Greece
Correspondence to:
Melpomeni Peppa, molypepa{at}otenet.gr
Von Hippel–Lindau disease (VHL) is an autosomal dominant disorder, caused by mutations of the VHL gene showing a strong genotype–phenotype correlation. The present report concerns a 16-year-old girl with VHL (retinal, spinal cord and cerebellar haemangioblastomas and pancreatic cysts), her father (retinal and spinal cord haemangioblastomas) and the phenotypically healthy mother and younger brother and sister. DNA extraction, PCR and direct sequencing of the VHL entire coding and intronic flanking sequences, were performed according to standard procedures. In the index patient and her father a novel heterozygous germline was identified; nonsense mutation (p.145X) in exon 2 of VHL, leading to a truncated VHL protein lacking the last 66 amino acids. This is the first report of a novel VHL mutation in patients with VHL associated with haemangioblastomas and pancreatic cysts but not renal cell carcinoma.
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