Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 152A, Issue 1, Pages 245-255Publisher
WILEY
DOI: 10.1002/ajmg.a.33188
Keywords
thanatophoric dysplasia; short-limb dwarfism; achondroplasia; FGFR3; Snail
Categories
Funding
- ISCIII, Spanish Ministry of Science and Innovation
- Spanish Ministry of Science and Innovation [BFU2008-01042, CSD2007-00017, CSD2007-00023]
- Generalitat Valenciana [2008/049]
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Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We review the clinical, epidemiological, radiological, molecular aspects, and signaling pathways involved in these conditions. It is known that FGFR3 signaling is essential to regulate bone growth. The signal transducers and activators of transcription (STAT1) pathway is involved in the inhibition of chondrocyte proliferation, and the mitogen -activated protein kinase (MAPK) pathways are involved in chondrocyte differentiation. Hence, FGFR3 signaling is pivotal in chondrocyte differentiation and proliferation through these two different active pathways. Recent studies on the molecular mechanisms involved in chondrocyte differentiation and proliferation, demonstrated that Snail I participates in the control of longitudinal bone growth and appears to be essential to transduce FGFR3 signaling during chondrogenesis. This result was confirmed in a newborn infant with TD, and suggests new nonsurgical therapeutic approaches, that is, Snail I as a new encouraging therapeutic target. (C) 2009 Wiley-Liss, Inc.
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