Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G ；p.Ter807Gly ；X807G mutation in FGFR3

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Title:	Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G ；p.Ter807Gly ；X807G mutation in FGFR3
Authors:	Wang, 陳馨文；Shin-Wen Chen；陳持平；Chih-Ping Chen；Liang-Kai Wa；Liang-Kai Wang；Schu-Rern Ch；Schu-Rern Chern；Pei-Chen Wu；Pei-Chen Wu；Yen-Ni Chen；Yen-Ni Chen；Chen-Ju Lin；Chen-Ju Lin；Wen-Ling Che；Wen-Ling Chen；Wayseen Wang；Wayseen
Contributors:	生物科技學系
Date:	2017-02
Issue Date:	2017-10-30 02:39:45 (UTC+0)
Abstract:	Abstract Objective We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. Case Report A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal ultrasound findings. Level II ultrasound examination revealed a narrow chest, shortened and curved long limbs, protrusion of the abdomen, and macrocephaly. A tentative diagnosis of TD1 was made. After genetic counseling, the pregnancy was terminated and a malformed fetus was delivered. Postnatal radiography findings were consistent with the diagnosis of TD1, with additional findings of short ribs, platyspondyly, and horizontal acetabular roofs. Molecular genetic analysis using umbilical cord tissue revealed a heterozygous mutation of c.2419T>G (p.Ter807Gly) (X807G) in the fibroblast growth factor receptor 3 gene (FGFR3). Conclusion A second-trimester fetus with a heterozygous c.2419T>G mutation in FGFR3 may present characteristic ultrasound and X-ray findings of TD1. Keywords FGFR3perinatal imaging findingsstop codon mutationthanatophoric dysplasia type 1
Relation:	TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
Appears in Collections:	[Department of Biotechnology] Journal Article

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