SLC35A2基因新生变异致先天性糖基化障碍1例

Congenital disorder of glycosylation caused by de novo variant of SLC35A2 gene:a case report

先天性糖基化障碍(CDG)是一组累及多器官系统的遗传代谢性疾病,相对罕见。我院收治1例SLC35A2基因相关CDG患者,临床表现为成串痉挛发作、发育迟缓、多发畸形等。家系3人全外显子基因组测序发现SLC35A2基因新生杂合错义变异:c.844G>A(p.Gly282Arg),根据美国医学遗传学与基因组学学会指南预测为可能致病性突变。此位点国内尚未见报道。

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.