Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
✍ Scribed by Hideaki Sawai; Shinji Komori; Akinori Ida; Takashi Henmi; Takefumi Bessho; Koji Koyama
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 180 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
No coin nor oath required. For personal study only.
✦ Synopsis
Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently, mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that cause two subtypes of this disorder, type I (TDI) and type II (TDII), have been identified. This discovery has now made it possible to make a definite diagnosis of TD by molecular methods. To date, prenatal diagnosis of TD has been accomplished by ultrasonography in the second trimester. However, it is not always possible to distinguish TD fetuses in utero from the other osteochondrodysplasias by ultrasonography or radiography. We report on the prenatal diagnosis of a TD fetus, showing severe shortness of limbs and polyhydramnios, by identification of a mutation in the FGFR3 gene. Genomic DNA was isolated from the amniotic fluid and then subjected to PCR amplification. The common TDI mutation, C<T transition at nucleotide 742 in the FGFR3 gene, was identified using restriction enzyme analysis. This information was critical in obstetric management decisions later in pregnancy. However, although the mutation responsible for TDI was detected previously, we noticed some inconsistencies in the published PCR results and have proposed a correction.