Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene
10.3760/cma.j.cn511374-20210317-00236
- VernacularTitle:一例 DCLRE1C变异所致重症联合免疫缺陷患儿的遗传学分析
- Author:
Xiaowei XU
1
;
Dandan YAN
;
Jing YIN
;
Jie ZHENG
;
Xuetao WANG
;
Jianbo SHU
Author Information
1. 天津市儿童医院（天津大学儿童医院），天津 300134
- Keywords:
Severe combined immune deficiency;
DCLRE1C gene;
ARTEMIS protein;
Variant analysis;
Genetic testing
- From:
Chinese Journal of Medical Genetics
2022;39(7):743-748
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic etiology of a child with severe combined immunodeficiency (SCID).Methods:Whole exome sequencing (WES) and copy number variation (CNV) analysis were carried out to screen potential variants in the proband. Suspected variants were validated by Sanger sequencing and qPCR.Results:WES showed that the proband harbored compound heterozygous variants of the DCLRE1C gene, namely deletion of exons 1-3 and c. 322G>A (p.Val108Met) in exon 5. The exon 1-3 deletion was derived from his father and was known to be pathogenic, while the c. 322G>A was derived from his mother and was unreported previously. Conclusion:The compound heterozygous variants of the DCLRE1C gene probably underlay the SCID in this child.
