Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 76, Issue 2, Pages 361-367Publisher
CELL PRESS
DOI: 10.1086/427956
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Funding
- NIAMS NIH HHS [T32 AR007033, AR47866, AR02095, R01 AR042228, R01 AR047866, AR42228] Funding Source: Medline
- NIA NIH HHS [AG18397, P01 AG018397] Funding Source: Medline
- NICHD NIH HHS [HD39952, P01 HD039952] Funding Source: Medline
- NIDDK NIH HHS [DK063934, R01 DK063934] Funding Source: Medline
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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.
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