目的:我们通过全外显子组测序鉴定了PIGN基因中的一个新的纯合剪接位点突变,并探讨了基因型与表型的相关性。
方法:一名健康的32岁女性在妊娠13+5周时接受了超声检查。超声再次显示包括囊性水瘤在内的多种异常,脐膨出和室间隔缺损。随后终止了妊娠,全外显子组测序揭示了PIGN基因c.963G>A(p。Gln321Gln)。通过基于家谱的Sanger测序在两个亲本中也检测到相同的变体为杂合的,而他们有正常的核型。
结论:我们的病例报告增强了与PIGN基因纯合功能缺失相关的表型-基因型相关性。
OBJECTIVE: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype-phenotype correlation.
METHODS: 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.
CONCLUSIONS: Our
case report enhances the phenotype-genotype correlation associated with homozygous loss of function mutations in the PIGN gene.