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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

Authors
Journal
Biochemical and Biophysical Research Communications
0006-291X
Publisher
Elsevier
Publication Date
Volume
227
Issue
1
Identifiers
DOI: 10.1006/bbrc.1996.1495

Abstract

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.

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