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.
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.
Pokharel
R K
RK
Division of Genetics, International Center for Medical Research, Kobe University School of Medicine, Japan.
Alimsardjono
H
H
Takeshima
Y
Y
Nakamura
H
H
Naritomi
K
K
Hirose
S
S
Onishi
S
S
Matsuo
M
M
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
D017468:Receptors, Fibroblast Growth Factor; D003562:Cytidine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D013941:Thymine