Congenital disorder of glycosylation caused by de novo variant of SLC35A2 gene: a case report
10.3760/cma.j.cn113694-20210520-00351
- VernacularTitle:SLC35A2基因新生变异致先天性糖基化障碍1例
- Author:
Yan DONG
1
;
Ke ZHANG
;
Kaixian DU
;
Xiaoyi SHI
;
Yali SHI
;
Ruijuan XU
;
Tianming JIA
;
Xiao LI
Author Information
1. 郑州大学第三附属医院小儿神经内科，郑州450052
- Keywords:
Congenital disorder of glycosylation;
SLC35A2 gene;
Epileptic encephalopathy;
de novo Variant
- From:
Chinese Journal of Neurology
2022;55(1):60-64
- CountryChina
- Language:Chinese
-
Abstract:
Congenital disorder of glycosylation (CDG) is a group of genetic metabolic diseases involving multiple organs. A case of CDG caused by SLC35A2 gene mutation was diagnosed. The clinical characteristics included spasms, developmental retardation and multiple malformations. Video-electroencephalogram showed dysrhythmia. A de novo heterozygous missense mutation of SLC35A2 gene was detected by whole exome sequencing: c.844G>A (p.Gly282Arg). It was predicted to be likely pathogenic according to American College of Medical Genetics and Genomics guidelines which had not been reported in China.
