@article{df4f3bd6d8e94742aed32c373ce4177b,
title = "Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation",
abstract = "Activating mutations in the genes for fibroblast growth factor receptors 1-3 (FGFR1-3) are responsible for a diverse group of skeletal disorders. In general, mutations in FGFR1 and FGFR2 cause the majority of syndromes involving craniosynostosis, whereas the dwarfing syndromes are largely associated with FGFR3 mutations. Osteoglophonic dysplasia (OD) is a {"}crossover{"} disorder that has skeletal phenotypes associated with FGFR1, FGFR2, and FGFR3 mutations. Indeed, patients with OD present with craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as the rhizomelic dwarfism and nonossifying bone lesions that are characteristic of the disorder. We demonstrate here that OD is caused by missense mutations in highly conserved residues comprising the ligand-binding and transmembrane domains of FGFR1, thus defining novel roles for this receptor as a negative regulator of long-bone growth.",
author = "White, {Kenneth E.} and Cabral, {Jose M.} and Davis, {Siobhan I.} and Tonya Fishburn and Evans, {Wayne E.} and Shoji Ichikawa and Joanna Fields and Xijie Yu and Shaw, {Nick J.} and McLellan, {Neil J.} and Carole McKeown and David FitzPatrick and Kai Yu and Ornitz, {David M.} and Econs, {Michael J.}",
note = "Funding Information: We are very grateful to the kindreds for their participation and for permission to present family photographs. We also thank David Weaver, M.D., for assistance in characterizing the craniofacial features of OD; Mack Harrell, M.D., and Dawn Vickers, R.N., for taking many of the original patient photographs and obtaining blood samples; and Jean Kirk, M.D., for facilitating the sample processing. The authors also greatly appreciate the scientific advice from Moosa Mohammadi, Ph.D., and from Omar Ibrahimi, given during the course of these studies. This work was supported by National Institutes of Health grant DK063934 (to K.E.W.), training grant T32 AR007033 (to K.Y.), grant HD39952 (to D.M.O.), and grants AR42228, AG18397, AR02095, and AR47866 (to M.J.E.). The authors would also like to acknowledge the support of the Indiana Genomics Initiative, supported in part by Lilly Endowment. ",
year = "2005",
month = feb,
doi = "10.1086/427956",
language = "English",
volume = "76",
pages = "361--367",
journal = "American journal of human genetics",
issn = "0002-9297",
number = "2",
}