Prenatal diagnosis of three cases of Zellweger spectrum disorders caused by PEX1 gene variants
10.3760/cma.j.cn113903-20231018-00267
- VernacularTitle:产前诊断 PEX1基因变异致Zellweger谱系障碍3例
- Author:
Shuqin CHENG
1
;
Yunxiao ZHI
1
;
Ling LIU
1
;
Lili HAN
1
;
Shihong CUI
1
;
Xueying CUI
1
Author Information
1. 郑州大学第三附属医院（河南省妇幼保健院）产前诊断中心，郑州 450052
- Publication Type:Journal Article
- Keywords:
Zellweger syndrome;
Prenatal diagnosis;
PEX1;
Mutation
- From:
Chinese Journal of Perinatal Medicine
2024;27(12):1054-1058
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical phenotypes and genotypes of fetal Zellweger spectrum disorders (ZSD).Methods:A retrospective analysis was conducted on the clinical data of three fetuses diagnosed with ZSD and their parents, who underwent family genetic testing at the Prenatal Diagnosis Center of the Third Affiliated Hospital of Zhengzhou University (Maternal and Child Health Hospital of Henan Province) from June 2020 to December 2021. The prenatal phenotypic and genotypic characteristics were summarized in combination with previous literature. Descriptive statistical analysis was used for the data.Results:The mothers of the three fetuses were all primiparous, aged 32, 29, and 33 years, respectively. The gestational weeks at the first detection of fetal abnormalities were 23 weeks and 2 days, 24 weeks, and 33 weeks and 3 days, respectively. Case 1 only showed increased nuchal translucency, while Case 2 and 3 showed brain structural abnormalities. Chromosomal microarray analysis of the three cases did not detect any pathogenic or potentially pathogenic copy number variations. However, heterozygous deletions of unknown significance at 6q13q15 and 7q21.13q22.1 were detected in Case 1. All three fetuses were found to have pathogenic PEX1 variants, which were inherited from their parents. A novel heterozygous variant c.1 246_1247del detected in Case 3 was not previously reported in China. All three families chose to terminate the pregnancies. The mother in family 2 conceived naturally six months later, and an early pregnancy test revealed a pathogenic heterozygous variant c.892_895dup (p.N299Ifs*2) in the PEX1 gene, leading to a diagnosis of being a carrier of the pathogenic PEX1 variant. She continued the pregnancy to full term, and the newborn was followed up with good health. The remaining two families did not have any further pregnancies. Conclusions:PEX1 gene variants may predominantly characterize the mutation spectrum of ZSD. When prenatal examinations reveal fetal craniofacial malformations, brain structural abnormalities, increased nuchal translucency, or high echogenicity of the liver and kidneys, heightened vigilance and comprehensive genetic testing are warranted to reduce birth defects.
