IMR Press / CEOG / Volume 49 / Issue 2 / DOI: 10.31083/j.ceog4902037
Open Access Case Report
Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type
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1 Department of Obstetrics, Shenzhen Futian Maternal and Child Health Hospital, 518045 Shenzhen, Guangdong, China
2 Department of Obstetrics, Shenzhen Maternal and Child Health Hospital, 518000 Shenzhen, Guangdong, China
*Correspondence: (Yunxia Wang); (Hui Wang)
Academic Editor: Giovanni Monni
Clin. Exp. Obstet. Gynecol. 2022, 49(2), 37;
Submitted: 8 December 2020 | Revised: 22 February 2021 | Accepted: 18 March 2021 | Published: 9 February 2022
Copyright: © 2022 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

Background: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with previous history of carrying a fetus with short limb malformation at the 17th week of gestation. DNA was extracted from amniotic fluid and next-generation sequencing-based deep panel sequencing was performed on the Illumina NextSeq platform to identify possible causative mutations of DDSH. Results: Two novel heterozygous mutations in HSPG2 gene, c.6001dupC (p. R2001pfs*19) and c.11207G>A (p. R373Q), were identified and associated with the DDSH diagnosis. Conclusion: This is the first report to prenatally identify novel mutations in HSPG2 that confirms a DDSH diagnosis.

Heparin sulfate proteoglycan 2
Dyssegmental dysplasia Silverman-Handmaker
Gene mutation
Prenatal diagnosis
Fig. 1.
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