Prenatal diagnosis of pyruvate dehydrogenase E1-α deficiency: a case report
10.3760/cma.j.cn113903-20220629-00670
- VernacularTitle:丙酮酸脱氢酶E1-α缺乏症产前诊断1例
- Author:
Jiao JIAO
1
;
Fengchang QIAO
;
Cuiping ZHANG
;
Yan WANG
;
Yun WU
;
Hailei GU
;
Yingchun LIN
;
Zhengfeng XU
;
Ping HU
Author Information
1. 南京医科大学附属妇产医院产前诊断中心，南京 210000
- Keywords:
Acidosis, lactic;
Pyruvate dehydrogenase (Lipoamide);
Whole exome sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2023;26(3):246-249
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a case of pyruvate dehydrogenase E1-α deficiency 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-α deficiency.
