FGFR2

A gene on chromosome 10q25.3-q26 that encodes fibroblast growth factor receptor-3, which has an extracellular region composed of 3 immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. Binding of a ligand unleashes a cascade of downstream signals that impact on mitogenesis and differentiation.

Molecular pathology
FGFR3 mutations are associated with Apert syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome and syndromic craniosynostosis.

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References in periodicals archive

Dickson, "An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis," Development, vol.

The Role of Fibroblast Growth Factors in Tooth Development and Incisor Renewal

Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.

Analisis molecular de los exones 8, 9 y 10 del gen del factor de crecimiento de fibroblastos (FGFR2) en dos familias con casos indice de sindrome de Apert.

"Mutations in fibroblast growth factor receptor 2 gene cause crouzon's syndrome".

Familial Crouzon's syndrome with patent ductus arteriosus: a rare coincidence

Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination.

Role of postnatal expression of Fgfr1 and Fgfr2 in testicular germ cells on spermatogenesis and fertility in mice

The resulting tree structure comprised SNPs from 5 genes: FGF2, FGFR2 (fibroblast growth factor receptor 2), FGFR4 (fibroblast growth factor receptor 4), FGF14 (fibroblast growth factor 14), and FGF23 (Fig.

Genetic variants in the fibroblast growth factor pathway as potential markers of ovarian cancer risk, therapeutic response, and clinical outcome

Because the cephalometric examination and fibroblast growth factor receptor 2 were normal, we could exclude the diagnosis of Crouzon syndrome.

Polycythemia, Ablepsia, and Obesity Hypoventilation Syndrome: A Case Report