PEX1 gene related Zellweger syndrome: a report of 2 cases and literature review
10.3760/cma.j.issn.2096-2932.2019.03.008
- VernacularTitle:PEX1基因变异致新生儿Zellweger综合征二例并文献复习
- Author:
Chang YE
1
;
Guoqiang CHENG
;
Laishuan WANG
;
Bingbing WU
;
Huijun WANG
;
Wenhao ZHOU
;
Lin YANG
Author Information
1. 复旦大学附属儿科医院新生儿科卫生部新生儿疾病重点实验室
- Keywords:
Zellweger syndrome;
Zellweger spectrum disorders;
PEX1 gene;
Infant,newborn
- From:Chinese Journal of Neonatology
2019;34(3):197-202
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the phenotypic and genotypic characteristics of Zellweger syndrome caused by PEX1 gene mutation.Method The clinical data of 2 neonates with Zellweger syndrome admitted to the Hospital were retrospectively analyzed.The databases of CNKI,Wipp and Wanfang were retrieved with “peroxisomal disease”,“Zellweger syndrome”,“Zellweger pedigree disorder”,and “PEX1 gene” as key words and the human gene mutation database (HGMD) was retrieved with “PEX1” as the gene name.The biomedical literature database (PubMed),Web of Science database and Embase database were retrieved with “Zellweger syndrome”,“Zellweger spectrum disorder PEX1 gene” as key words.All the databases were retrieved up to Nov 8,2018 to summarize the clinical phenotype and genotype characteristics of children with Zellweger syndrome.Result A total of 2 neonates with Zellweger syndrome were admitted to our Hospital,including 1 male and 1 female.Both the newborns presented with hypotonia,feeding difficulties clinically and showed dilated cerebral ventricles in neuroimaging.They were detected compound heterozygous for PEX1 mutations.Case 1 with the variants [NM_000466:exon 12:c.2050C＞T (p.Q684X);NM_000466:exon20:c.3043G＞T(p.E1015X)] have suffered from seizure at 2 months old.Case 2 with the variants [NM_000466.2:exon5:c.892_895dupTATA (p.Asn299IlefsTer2);NM_000466:exon19:c.2927-2delA] died in the neonatal period.No cases of newborn Zellweger syndrome caused by PEX1 gene mutation have been reported in China.There was a total of 6 articles and 13 cases were reported from foreign literature databases.All the cases presented as hypotonia,abnormal liver function,wide sutures (large fontanelle),hypertelorism and broad nasal bridge clinically.2 newborns carrying 2 missense variants were diagnosed as mild Zellweger spectrum disorder and atypical Zellweger syndrome the 10 newborns with 2 variants typed frameshift,nonsense or splice site were diagnosed as Zellweger syndrome.Conclusion Zellweger syndrome caused by defective gene PEX1 manifested as hypotonia,abnormal liver function,wide sutures (large fontanelle),hypertelorism and broad nasal bridge in neonatal period.Newborns with frameshift,nonsense or splice site variants in PEX1 have more severe clinical phenotypical features.
