Skeletal abnormalities including scoliosis, tibial dysplasia, sphenoid wing dysplasia, and decreased bone mineral density (BMD) are associated with neurofibromatosis type 1 (NF1). In this manuscript the authors report the cellular phenotype of NF1 human-derived osteoclasts and compare these in vitro findings with the clinical phenotype. They find that although osteoclast formation was increased, no direct correlation of osteoclast formation with BMD, markers of bone resorption, or the clinical skeletal phenotype was observed suggesting that osteoclast formation in vitro cannot directly predict NF1 skeletal phenotypes.
Stevenson DA, Yan J, He Y, Li H, Liu Y, Zhang Q, et al
Am J Med Genet A. 2011 Apr 4. doi: 10.1002/ajmg.a.33965. [Epub ahead of print]