Academic Editor: Giovanni Monni
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