title: Double inactivation of NF1 in tibial pseudarthrosis.
abstract: Osseous abnormalities, including long-bone dysplasia with pseudarthrosis (PA), are associated with neurofibromatosis type 1 (NF1). Prospectively acquired tissue from the PA site of two individuals with NF1 was used for immunohistochemical characterization and genotype analysis of the NF1 locus. Typical immunohistochemical features of neurofibroma were not observed. Genotype analysis of PA tissue with use of four genetic markers (D17S1863, GXALU, IN38, and 3NF1-1) spanning the NF1 locus demonstrated loss of heterozygosity. These results are the first to document double inactivation of NF1 in PA tissue and suggest that the neurofibromin-Ras signal transduction pathway is involved in this bone dysplasia in NF1.
authors.affiliation: Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA. David.Stevenson@hsc.utah.edu
authors.forename: David A
authors.initials: DA
authors.lastname: Stevenson
authors.forename: Holly
authors.initials: H
authors.lastname: Zhou
authors.forename: Shadi
authors.initials: S
authors.lastname: Ashrafi
authors.forename: Ludwine M
authors.initials: LM
authors.lastname: Messiaen
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
authors.forename: Jacques L
authors.initials: JL
authors.lastname: D'Astous
authors.forename: Stephen D
authors.initials: SD
authors.lastname: Santora
authors.forename: David H
authors.initials: DH
authors.lastname: Viskochil
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D020868:Gene Silencing; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D011542:Pseudarthrosis / Q000235:genetics*; D013977:Tibia / Q000473:pathology*
chemical_list: D017931:DNA Primers