title: Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.
abstract: Type I thanatophoric dysplasia (TD) is typically a lethal neonatal dwarfism, but a limited number of cases of type I TD cases survive more than one year, suggesting genetic heterogeneity. In this study, we analyzed the fibroblast growth factor receptor 3 (FGFR3) gene in 5 Japanese cases of type I TD with clinical symptoms ranging from lethal to long-survival. In every case, nucleotide sequence analysis of cDNA revealed a C to T transition at nucleotide 742 (C742T) in one allele of the FGFR3 gene, suggesting that type I TD is a rather homogeneous genetic condition, irrespective of clinical course. No association was found between C742T and C882T, although both nucleotides changes were from CpG dinucleotide in a near location.
authors.affiliation: Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Japan.
authors.forename: R K
authors.initials: RK
authors.lastname: Pokharel
authors.forename: H
authors.initials: H
authors.lastname: Alimsardjono
authors.forename: Y
authors.initials: Y
authors.lastname: Takeshima
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: S
authors.initials: S
authors.lastname: Hirose
authors.forename: S
authors.initials: S
authors.lastname: Onishi
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
mesh_terms: D002460:Cell Line; D002648:Child; D002675:Child, Preschool; D003562:Cytidine; D005804:Genes, Lethal; D018740:Genetic Heterogeneity; D006801:Humans; D007564:Japan; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000208:ethnology / Q000235:genetics*; D013941:Thymine
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D003562:Cytidine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D013941:Thymine