Korean J Obstet Gynecol.  1999 Oct;42(10):2214-2220.

Mutation at exon 10 of the fibroblast growth factor receptor 3 (FGFR3) in a fetus with thanatophoric dysplasia type I (TDI)

• Yang WK
• Park WI
• Ko DS
• Kim SH
• Kim EK
• Lee HJ

Abstract

Thanatophoric dysplasia (TD) is a sporadic lethal type of skeletal dysplasia featuring micromelia, decreased thoracic dimension and macrocephaly. To date, several kinds of mutation in fibroblast growth factor receptor 3 (FGFR3) has been identified in TD. We experienced a case of TD type I and underwent sequencing of the exon 7, 10 and the stop codon of FGFR3 to identify the type of mutation. TDI was diagnosed by the prenatal ultrasound at 25 weeks of gestation. The pregnancy was terminated and the diagnosis was confirmed by radiological and histologic examinations. The genomic DNA was extracted and the sequences of the exon 7, 10 and the stop codon of FGFR3 were amplified by PCR. The sequencing was performed for the each PCR products by dideoxyterminator method. The nucleotide transition from G to T was found in the nucleotide 1108, which is a part of the transmembrane domain, exon 10. To date, only one type of mutation (nucleotide 742) in the FGFR3 was identified in TD1 among Asian. This case firstly reveals the mutation of FGFR3 other than mutation at nucleotide 742 in TD1.

Keyword

Thanatophoric dysplasia; Fibroblast growth factor receptor 3; Mutation

MeSH Terms

Asian Continental Ancestry Group
Codon, Terminator
Diagnosis
DNA
Exons*
Fibroblast Growth Factors*
Fibroblasts*
Humans
Macrocephaly
Polymerase Chain Reaction
Pregnancy
Receptor, Fibroblast Growth Factor, Type 3*
Receptors, Fibroblast Growth Factor*
Thanatophoric Dysplasia*
Ultrasonography
Codon, Terminator
DNA
Fibroblast Growth Factors
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor