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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.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

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

doi

10.1086/427956

subject

Has Abstract

pub_date

2005-02-01 00:00:00

pages

361-7

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)62588-9

journal_volume

76

pub_type

杂志文章

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