{Reference Type}: Case Reports
{Title}: Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.
{Author}: Sun L;Yang X;Xu Y;Sun S;Wu Q;
{Journal}: Taiwan J Obstet Gynecol
{Volume}: 60
{Issue}: 3
{Year}: May 2021
{Factor}: 1.944
{DOI}: 10.1016/j.tjog.2021.03.026
{Abstract}: <B>OBJECTIVE: </B>We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotype correlation.<BR><B>METHODS: </B>A healthy 32-year-old woman underwent an ultrasound at 13 + 5 weeks of gestation. The ultrasound revealed multiple anomalies again including cystic hygroma, omphalocele and a ventricular septal defect. The pregnancy was subsequently terminated, and whole exome sequencing revealed a novel homozygous splice site mutation in the PIGN gene c.963 G > A (p.Gln321Gln). The same variant was also detected by pedigree-based Sanger sequencing in both parents as heterozygous, while they had normal karyotypes.<BR><B>CONCLUSIONS: </B>Our case report enhances the phenotype-genotype correlation associated with homozygous loss of function mutations in the PIGN gene.