Open AccessA novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau disease
Author(s) -
Μelpomeni Peppa,
Smaragda Kamakari,
Eleni Boutati,
P. Nikolopoulos,
Christoforos Giatzakis,
Theofanis Economopoulos,
Dimitrios Hadjidakis,
Sotirios A. Raptis
Publication year - 2009
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr.02.2009.1574
Subject(s) - exon , germline mutation , medicine , genetics , von hippel–lindau disease , sanger sequencing , mutation , missense mutation , cancer research , nonsense mutation , gene , disease , biology , pathology
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.