title: Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis.
abstract: Type 1 thanatophoric dysplasia (TD) is typically a lethal dwarfism. It is not always possible to distinguish fetuses with TD from other skeletal dysplasia in utero by ultrasonography. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene. Among the known mutations of this gene, the C742T (R248C) mutation is the most common one associated with type 1 TD. Exon 7 of the FGFR3 gene was analyzed in 10 prenatal samples with type 1 TD, as well as in 30 control individuals for the presence of the c.742 C > T variant using melting curve analysis with a high-resolution melting instrument. The high-resolution melting curve analysis successfully genotyped this mutation in all 10 samples with type 1 TD without the need of further assays. The technique had a sensitivity and specificity of 100%. This study suggest that high-resolution melting analysis is a simple, rapid, and sensitive one tube assay for genotyping the FGFR3 gene.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, China.
authors.forename: Ying-Na
authors.initials: YN
authors.lastname: Liu
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D016022:Case-Control Studies; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D009691:Nucleic Acid Denaturation; D020641:Polymorphism, Single Nucleotide; D011296:Prenatal Diagnosis / Q000379:methods; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000175:diagnosis / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3