1 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU2 Technical Division, Technical Services, Central Administration, SDU3 Institut for Klinisk Medicin - Klinisk Genetisk Afdeling4 Department of Biology, Faculty of Science, SDU5 Faculty of Engineering, SDU6 Human Genetics, Department of Clinical Research, Det Sundhedsvidenskabelige Fakultet, SDU7 Department of Biology, Faculty of Science, SDU8 Faculty of Engineering, SDU9 Technical Division, Technical Services, Central Administration, SDU
Fibroblast growth factors are structurally related proteins associated with cell growth, differentiation, migration, wound healing, angiogenesis, and oncogenesis. At the cellular level, their function is mediated by transmembrane tyrosinekinase receptors, fibroblast growth factor receptors. Four genes encoding fibroblast growth factor receptors have been identified, and mutations in three of these, FGFR1, FGFR2, and FGFR3, can cause different congenital, autosomal dominant disorders affecting the craniofacial and skeletal development: craniosynostosis and chondrodysplasias. The craniosynostosis syndromes: Apert syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Muenke syndrome, Pfeiffer syndrome and Saethre-Chotzen syndrome can be caused by mutation in either FGFR1, FGFR2, or FGFR3. Saethre-Chotzen syndrome can also be caused by mutation in a functionally related gene, ACS. The same mutation can cause different syndromes, and the same syndrome can be caused by mutations in different genes. The chondrodysplasias: achondroplasia, hypochondroplasia, and thanatophoric dysplasia are all caused by mutations in FGFR3.
Ugeskrift for Laeger, 2001, Vol 163, Issue 36, p. 4862-7