The Roles of Fibroblast Growth Factor Receptor 3 (FGFR3) in the Spectrum of Skeletal Dysplasia

The fibroblast growth factor receptor 3 (FGFR3) gene mutations were identified to be involved in the pathogenesis of most chondropathies. FGFR3 encodes and is regulation bone by limiting ossification long bones. Mutations result abnormal cell proliferation improper cartilage development. We aim provide an overview roles skeletal dysplasia highlighting pathogenesis, clinical variants dysplasia, diagnosis, their management.
 Achondroplasia common form chondropathies, occurring approximately 1 20,000-30,000 live births, it genetic dwarfism. In over 80% cases achondroplasia, mutation sporadic, only 20% are inherited autosomal dominant. results from a point encoding transmembrane portion FGFR3. Two viable base substitutions including guanine substituted for adenine (c.1138G>A); this 98% affected individuals, transversion cytosine (c.1138G>C).
 Hypochondroplasia milder chondropathies with incidence between 33,000 47,000 births. Missense (p.Asn540Lys) isolated tyrosine kinase domain I 60% cases, missense (p.Lys650Asn) II Thanatophoric lethal neonatal fetal death secondary pulmonary hypoplasia. thanatophoric there Lys650Met substitution (Type I) impairment endochondral pathogenic variant p.Lys650Glu II). addition, specific amino acid (G380R) was associated severe achondroplasia developmental delay acanthosis nigricans (SADDAN).
 diagnosis achondroplasias routinely made presentations radiological findings. molecular testing performed children atypical presentations. pre-implantation should available parents pursuing in-vitro fertilization embryo implantation procedures. Management includes symptomatic treatment drugs, surgical intervention, lifelong follow-up care. Different pharmacological options have been used, those that directly block activation or regulate signalling pathways controlling chondrocyte differentiation.