丙酮酸脱氢酶E1-α缺乏症产前诊断1例

Prenatal diagnosis of pyruvate dehydrogenase E1-αdeficiency:a case report

本文报道了1例由产前超声提示胎儿脑部发育异常、引产后全外显子组测序及Sanger验证确诊的丙酮酸脱氢酶E1-α缺乏症病例。孕25周+1时超声提示胎儿双侧侧脑室轻度增宽,颅内出血可能,复查MRI提示胎儿胼胝体缺如、双侧侧脑室增宽、室旁囊肿。经遗传咨询及慎重考虑后,胎儿父母选择终止妊娠。为明确病因,取引产胎儿皮肤组织进行全外显子组测序,发现胎儿PDHA1基因的10号外显子发生移码变异c.924_930dup(p.R311Gfs*5),Sanger测序验证该位点结果与全外显子组测序结果一致,且为新发的致病性变异,确诊为丙酮酸脱氢酶E1-α缺乏症。

This article reported a case of pyruvate dehydrogenase E1-αdeficiency suggested by abnormal brain development during prenatal ultrasound imaging.Prenatal ultrasound revealed a mild enlargement of bilateral cerebral ventricles and the possibility of intracranial hemorrhage in the fetus at 25+1 weeks of gestation.MRI showed the fetus with absent corpus callosum,enlarged bilateral cerebral ventricles and paraventricular cysts.After genetic counseling and careful consideration,the couple opted for pregnancy termination.To clarify the cause of the disease,whole-exome sequencing was performed on the fetal skin to detect possible variants,and which revealed a frameshift mutation c.924_930dup(p.R311Gfs*5)in exon 10 of the PDHA1 gene.Sanger sequencing confirmed the mutation was a de novo pathogenic variant,indicating that the fetus was affected by pyruvate dehydrogenase E1-αdeficiency.