Variation analysis of EPG5 gene in a Vici syndrome family.
10.3760/cma.j.cn511374-20210216-00131
- VernacularTitle:一个Vici综合征家系的
EPG5基因变异分析
- Author:
Lulu YAN
1
;
Yan CAI
;
Yingwen LIU
;
Chunxiao HAN
;
Yifan HUO
;
Min XIE
;
Jiangyang XUE
;
Haibo LI
Author Information
1. Ningbo Women and Children's Hospital, the Central Laboratory of Birth Defects Prevention and Control, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Aged;
Agenesis of Corpus Callosum;
Autophagy-Related Proteins;
Cataract;
Female;
Humans;
Mutation;
Pregnancy;
Vesicular Transport Proteins/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(2):189-193
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of Vici syndrome in a Chinese family.
METHODS:Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents.
RESULTS:The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging.
CONCLUSION:The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
