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Am J Hum Genet. 2006 Jul;79(1):143-8. Epub 2006 May 10.

Double inactivation of NF1 in tibial pseudarthrosis.

Author information

1
Department of Pediatrics, University of Utah, Salt Lake City, 84132, USA. David.Stevenson@hsc.utah.edu

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.

PMID:
16773574
PMCID:
PMC1474128
DOI:
10.1086/504441
[Indexed for MEDLINE]
Free PMC Article
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