| Scientific background: |
FGFR1, Fibroblast growth factor receptor 1, also known as basic fibroblast growth factor receptor 1, fms-related tyrosine kinase-2 / Pfeiffer syndrome, and CD331, is a receptor tyrosine kinase whose ligands are specific members of the fibroblast growth factor family. The FGFR1 gene is localized to 8p12-p11.2 by in situ hybridization. FGFR1 is essential for the normal formation of the organ of Corti and that phenotype severity observed in FGFR1 mutants is dependent on the dose of FGFR1.Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, squamous cell lung cancer and autosomal dominant Kallmann syndrome 2. |
| References: |
1. Pirvola, U., Ylikoski, J., Trokovic, R., Hebert, J. M., McConnell, S. K., Partanen, J. FGFR1 is required for the development of the auditory sensory epithelium.
2. Roscioli, T., Flanagan, S., Kumar, P., Masel, J., Gattas, M., Hyland, V. J., Glass, I. A.Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.Am. J. Med. Genet. 93: 22-28, 2000.
3. Ruta, M., Howk, R., Ricca, G., Drohan, W., Zabelshansky, M., Laureys, G., Barton, D. E., Francke, U., Schlessinger, J., Givol, D.A novel protein tyrosine kinase gene whose expression is modulated during endothelial cell differentiation.Oncogene 3: 9-15, 1988.
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