Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type

Abstract

Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type Yunxia Wang1,*, Hui Wang2,* 1Department of Obstetrics, Shenzhen Futian Maternal and Child Health Hospital, 518045 Shenzhen, Guangdong, China 2Department of Obstetrics, Shenzhen Maternal and Child Health Hospital, 518000 Shenzhen, Guangdong, China *Correspondence: wang-yunxia@163.com (Yunxia Wang); 13823106635@163.com (Hui Wang) Academic Editor: Giovanni Monni Submitted: 8 December 2020 Revised: 22 February 2021 Accepted: 18 March 2021 Published: 9 February 2022 Abstract 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. Keywords: Heparin sulfate proteoglycan 2; Dyssegmental dysplasia Silverman-Handmaker; Gene mutation; Prenatal diagnosis