A novel germline mutation of the VHL gene in a Greek family with Von Hippel–Lindau disease
- Melpomeni Peppa1,
- Smaragda Kamakari2,
- Eleni Boutati1,
- Panagiotis Nikolopoulos1,
- Christoforos Giatzakis2,
- Theofanis Economopoulos1,
- Dimitrios Hadjidakis1,
- Sotirios A Raptis1,3
- 1Endocrine Unit, Second Department of Internal Medicne-Propaedeutic, Research Institute and Diabetes Center, Athens University Medical School, Attikon University Hospital, 1 Rimini Street, Athens, Greece
- 2BioGenomica, Center for Genetic Research and Analysis, 4 Papanikoli Street, Athens, Greece
- 3Hellenic National Diabetes Center for Research, Prevention and Treatment of Diabetes and its Complications, HNDC, 3 Ploutarchou Street, Athens, Greece
- Melpomeni Peppa, molypepa{at}otenet.gr
- Published 19 August 2009
Summary
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.
Footnotes
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Competing interests: None.
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Patient consent: Patient/guardian consent was obtained for publication.
