一个Vici综合征家系的EPG5基因变异分析CSCD |
| |
引用本文: | 闫露露,蔡艳,刘颖文,韩春晓,霍奕帆,解敏,薛江阳,李海波. 一个Vici综合征家系的EPG5基因变异分析CSCD[J]. 中华医学遗传学杂志, 2022, 0(2): 189-193 |
| |
作者姓名: | 闫露露 蔡艳 刘颖文 韩春晓 霍奕帆 解敏 薛江阳 李海波 |
| |
作者单位: | 1.宁波市妇女儿童医院出生缺陷综合防治实验室315012;2.宁波市妇女儿童医院妇科315012;3.宁波市妇女儿童医院影像科315012; |
| |
基金项目: | 浙江省医药卫生计划(2020KY889,2020KY890);宁波市社会发展公益计划(2019C50070);宁波市科技计划(2014B82003,202002N3150)。 |
| |
摘 要: | 目的探讨一个Vici综合征家系的遗传学病因, 为其遗传咨询和产前诊断提供依据。方法提取染色体核型和单核苷酸多态性微阵列芯片分析未见明显异常的双侧侧脑室增宽、胼胝体缺如胎儿的脐血及其父母和患病姐姐的外周血样DNA, 应用全外显子组测序(whole exome sequencing, WES)技术进行基因变异检测, 针对可疑变异进行Sanger测序验证和生物信息学预测。结果 WES和Sanger证实胎儿和姐姐EPG5基因均存在c.2427delC (p.T809fs)和c.1886A>T (p.E629V))复合杂合变异, 分别遗传自其母亲和父亲, 两个变异均为未报道过的新变异。按照美国医学遗传学学会变异分类指南, c.2427delC变异为可能致病变异, c.1886A>T变异为临床意义不明确变异。c.1886A>T变异经PolyPhen-2和PROVEAN软件预测可能为有害变异。结论 EPG5基因c.2427delC和c.1886A>T变异为该Vici综合征家系的致病原因。上述发现丰富了EPG5基因变异谱, 为家系的产前诊断和再生育提供了指导。
|
关 键 词: | Vici综合征 全外显子组测序 EPG5基因 复合杂合变异 |
Variation analysis of EPG5 gene in a Vici syndrome familyCSCD |
| |
Affiliation: | 1.Ningbo Women &- Children's Hospital, Central Laboratory of Birth Defects Prevention and Control, Zhejiang, Ningbo315012;2.Department of Gynaecology, Ningbo Women and Children's Hospital, Zhejiang, Ningbo315012;3.Department of Medical, Imaging Ningbo Women and Children's Hospital, Zhejiang, Ningbo315012; |
| |
Abstract: | Objective To explore the genetic etiology of Vici syndrome in a Chinese family. Methods Whole exorne 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. 1886AT (p. E629V) compound heterozygous variants of the EPGS 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. 1886AT 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. 1886AT 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. © 2022 West China University of Medical Sciences. All rights reserved. |
| |
Keywords: | Compound heterozygous variants EPG5 gene Vici syndrome Whole exorne sequencing |
本文献已被 维普 等数据库收录! |
|