Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I

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IMR Press / CEOG / Volume 47 / Issue 1 / DOI: 10.31083/j.ceog.2020.01.4910

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Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I

Q.C. Wu^1,*, W.B. Wang¹, L. Sun¹, Y.S. Xu¹, X.J. Xie¹, X.M. Ma¹, Z.Y. Su¹

¹ Prenatal Diagnosis Center of Xiamen's Maternal & Child Health Care Hospital, Xiamen City, Fujian Province, China

^*Correspondence: qichang_wu@163.com (Q.C. WU)

Clin. Exp. Obstet. Gynecol. 2020, 47(1), 7–11; https://doi.org/10.31083/j.ceog.2020.01.4910

Published: 15 February 2020

Copyright: © 2020 Wu et al. Published by IMR Press.

This is an open access article under the CC BY-NC 4.0 license https://creativecommons.org/licenses/by-nc/4.0/.

Abstract

Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses. Materials and Methods: Eight cases of severe fetal short-limb dwarfism detected by antenatal ultrasonography were referred to this center. Before the termination of pregnancy, cordocentesis was performed for FGFR3 gene-sequencing analysis. Postmortem radiographic examination was performed in each instance for definitive diagnosis. Results: By FGFR3 gene sequencing, the authors identified six cases with missense mutations and two cases with stop codon mutations in the FGFR3 gene. Among the 6 FGFR3 missense mutations, four cases revealed a heterozygous p.Arg248Cys mutation, one case had a heterozygous p. Tyr373Cys mutation, and one case had a heterozygous p.Ser348Cys mutation. Discussion: The present data confirm the existence of hotspot FGFR3 mutations of TD1 and suggest that considerable overlap may occur between genotypes and phenotypes among FGFR3-related skeletal dysplasias.

Keywords

Thanatophoric dysplasia

FGFR3 gene

Mutation

Prenatal diagnosis

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Clin. Exp. Obstet. Gynecol. Print ISSN 0390-6663 Electronic ISSN 2709-0094