title: [Nucleotide sequences at intron 6 and exon 7 junction of fibroblast growth factor receptor 2 and rapid mutational analysis in Apert syndrome].
abstract: Apert syndrome, acrocephalosyndactyly Type I, is an autosomal dominant craniosynostosis comprising acrocephaly, facial dysmorphism and severe syndactyly of the hands and feet. Missense mutations at codons 252 and 253 at 5'-end on exon 7 of fibroblast growth factor receptor (FGFR) 2 have been identified in a large number of patients with Apert syndrome. In this study, nucleotide sequences on the intron 6 were determined by vector ligation-PCR and direct sequencing. Five DNA samples from sporadic Apert syndrome were examined by non-RI SSCP and direct sequencing using a primer pair of intron 6 and exon 7. All cases of the syndrome showed abnormal banding pattern in the SSCP and missense mutations from Ser to Trp at codon 252 of the FGFR2 gene. The non-RI SSCP and direct sequencing of the FGFR2 exon 7 from genomic DNAs may be a useful and rapid molecular means for clinical diagnosis of Apert syndrome.
authors.affiliation: Department of Clinical Pathology, Kitasato University, School of Medicine, Sagamihara, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Wada
authors.forename: M
authors.initials: M
authors.lastname: Ishigaki
authors.forename: Y
authors.initials: Y
authors.lastname: Toyo-oka
authors.forename: H
authors.initials: H
authors.lastname: Yamabe
authors.forename: Y
authors.initials: Y
authors.lastname: Ohnuki
authors.forename: F
authors.initials: F
authors.lastname: Takada
authors.forename: Y
authors.initials: Y
authors.lastname: Yamazaki
authors.forename: H
authors.initials: H
authors.lastname: Ohtani
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; 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