title: [The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].
abstract: 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.
authors.affiliation: Arhus Universitetshospital, Arhus Kommunehospital, klinisk genetisk afdeling og neurokirurgisk afdeling GS. hertz@aaa.dk
authors.forename: J M
authors.initials: JM
authors.lastname: Hertz
authors.forename: I
authors.initials: I
authors.lastname: Juncker
authors.forename: L
authors.initials: L
authors.lastname: Christensen
authors.forename: J R
authors.initials: JR
authors.lastname: Østergaard
authors.forename: P K
authors.initials: PK
authors.lastname: Jensen
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D009154:Mutation; D011859:Radiography; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
chemical_list: D017468:Receptors, Fibroblast Growth Factor