Identifying of the ERCC8 gene mutations in a pedigree with Cockayne syndrome
10.3760/cma.j.issn.1009-9158.2018.05.008
- VernacularTitle:一例科凯恩综合征家系ERCC8基因突变位点的鉴定
- Author:
Xiaoliang LI
1
;
Guoling YOU
;
Bo WANG
;
Lichen ZHANG
;
Xiaoqing ZHANG
;
Yongguo YU
;
Qihua FU
Author Information
1. 200127,上海交通大学医学院附属上海儿童医学中心检验科
- Keywords:
Cockayne syndrome;
Gene;
Mutation
- From:
Chinese Journal of Laboratory Medicine
2018;41(5):366-369
- CountryChina
- Language:Chinese
-
Abstract:
Objective To identify the pathogenesis gene mutation of a pedigree with Cockayne syndrome.Methods The peripheral blood samples of the patient and his family members were collected and the genomic DNA was then extracted.Whole exome sequencing(WES)was performed for proband′s DNA.The disease-causing mutations were identified by bioinformatics analysis and pedigree analysis. Meanwhile,the mutations were confirmed by Sanger sequencing.Results Two novel mutations in ERCC8 gene,including c.400-2A >G and c.394_398delATGTA(p.L132fs)were identified in proband.The splicing mutation originated from his father and changed the splice acceptor site AG to GG, thus possibly caused alternative splicing.The c.394_398delATGTA(p.L132fs)frameshifting mutation was inherited from his mother.The proband′s sister also carried the same compound heterozygous mutation and had the same phenotype as proband.Conclusion The pathogenesis ERCC8 gene mutation of this pedigree with Cockayne syndrome was identified by using whole exome sequencing.
