title: Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.
abstract: Achondroplasia, the most common cause of chondrodysplasia in man, is characterized by short-limbed dwarfism, macrocephaly, and dysplasia of metaphyses of the tubular bones. Recently, mutations in the gene encoding fibroblast growth factor receptor-3 (FGFR-3) have been found in patients with achondroplasia. All mutations so far reported had occurred at codon 380, resulting in the substitution of an arginine for a glycine in the transmembrane domain of the predicted protein. We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia. Of the six cases that were sporadic, all carried a mutation in codon 380; the single familial case bore a novel mutation of a G-to-T transition at codon 375, which resulted in substitution of a cysteine for a glycine.
authors.affiliation: Department of Biochemistry, Cancer Institute, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Ikegawa
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: M
authors.initials: M
authors.lastname: Isomura
authors.forename: F
authors.initials: F
authors.lastname: Takada
authors.forename: Y
authors.initials: Y
authors.lastname: Nakamura
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D003062:Codon; D017931:DNA Primers; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D004262:DNA Restriction Enzymes