title: DNA-based diagnosis of the von Hippel-Lindau syndrome.
abstract: OBJECTIVE
  To evaluate the etiology of a unilateral hemangioblastoma noted in a male with a family history remarkable only for spine surgery in the proband's father.
  
  
  METHODS
  Genomic DNA was isolated from peripheral blood of family members, and the three exons of the von Hippel-Lindau gene were examined for mutations by direct sequencing.
  
  
  RESULTS
  A three base pair (bp) deletion in exon 1 of the VHL gene was found in the father and both sons. This in-frame deletion results in the loss of a phenylalanine residue from the von Hippel-Lindau protein product, at amino acid position 76.
  
  
  CONCLUSIONS
  Genetic screening has confirmed that von Hippel-Lindau syndrome is responsible for the hemangioblastoma in the proband. Magnetic resonance imaging scans performed as a consequence of these results indicated spinal tumors present in the father and tumors present in the cerebellum of the proband's sibling. As close, lifelong follow-up is warranted with this disease, this case demonstrates the value of DNA testing in patients with ocular findings consistent with von Hippel-Lindau disease in the absence of a recognized family history.
authors.affiliation: Division of Ophthalmology, Childrens Hospital Los Angeles, California 90027, USA.
authors.forename: R J
authors.initials: RJ
authors.lastname: Patel
authors.forename: B
authors.initials: B
authors.lastname: Appukuttan
authors.forename: S
authors.initials: S
authors.lastname: Ott
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: J T
authors.initials: JT
authors.lastname: Stout
mesh_terms: D000293:Adolescent; D000328:Adult; D002528:Cerebellar Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D002648:Child; D004247:DNA / Q000032:analysis*; D017931:DNA Primers / Q000737:chemistry; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005820:Genetic Testing; D018325:Hemangioblastoma / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D006801:Humans; D017075:Laser Coagulation; D008025:Ligases; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D019572:Retinal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: D017931:DNA Primers; D011506:Proteins; D025521:Tumor Suppressor Proteins; D004247:DNA; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human