Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

Article Details

Citation

White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

Am J Hum Genet. 2005 Feb;76(2):361-7. Epub 2004 Dec 28.

PubMed ID
15625620 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Fibroblast growth factor receptor 1P11362Details