title: Pfeiffer syndrome caused by haploinsufficient mutation of FGFR2.
abstract: Mutations of the fibroblast growth factor receptors (FGFRs) cause several dominantly inherited congenital skeletal disorders and syndromes. Recently, these mutations have been suggested to cause either ligand-independent activation of the receptor or a dominant negative inactivation. The analysis of two Japanese patients with Pfeiffer syndrome and postaxial polydactyly of the hand now shows that both carried the same 1119-2A-to-G transition of the FGFR2 gene and this nonsense mutation caused skipping of exon 9(B) and haploinsufficiency of FGFR2.
authors.affiliation: The Institute of DNA Medicine, Department of Plastic and Reconstructive Surgery, The Jikei University School of Medicine, Tokyo, Japan. marit@jikei.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Tsukuno
authors.forename: H
authors.initials: H
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Eto
mesh_terms: D000168:Acrocephalosyndactylia / Q000209:etiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005530:Foot Deformities / Q000235:genetics; D006226:Hand Deformities / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D017689:Polydactyly / Q000235:genetics; D012326:RNA Splicing / Q000235:genetics; 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