title: Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
abstract: Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2 in nine unrelated affected individuals as well as complete cosegregation between SSCP variation and disease in three unrelated multigenerational families. In four sporadic cases, the normal parents did not have SSCP variation. Finally, direct sequencing has revealed specific mutations in the B exon in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.
authors.affiliation: Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: P
authors.initials: P
authors.lastname: Rutland
authors.forename: L J
authors.initials: LJ
authors.lastname: Pulleyn
authors.forename: B M
authors.initials: BM
authors.lastname: Jones
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2