MOGS基因新突变致先天性糖基化障碍Ⅱb型1例

Congenital disorder of glycosylation-typeⅡb caused by new mutation of MOGS gene:A case report

目的 对1例甘露糖基-低聚糖葡萄糖苷酶(MOGS)基因缺陷患儿的临床资料进行回顾性分析,以提高临床对该病的认识。方法 分析患儿母亲产检结果、出生后临床特征、生化影像检查结果、全基因组测序检测结果和随访结果。结果 患儿在产前羊水穿刺单基因遗传病基因检测显示意义不明的突变,出生后基因检测检出MOGS基因存在杂合变异,疑似致病,突变点为NM_006302.2:c.1212_1239dup,为未报道过的突变。结论 本例MOGS-CDG患儿,其产前诊断基因谱与生后基因检测有差异,需进一步完善产前基因检测手段,避免严重缺陷儿童的出生。

Objective To study the clinical data for a child with a deficiency in the mannosyl-oligosaccharide glucosi-dase(MOGS)gene to improve clinical understanding of this disease.Methods We analyzed the prenatal examination results of the child's mother,postnatal clinical features,biochemical imaging examination results,whole-genome sequencing results,and follow-up results.Results The child’s prenatal amniocentesis single-gene genetic disease screening showed a mutation of un-known significance.Postnatal genetic testing detected compound heterozygous mutations in the MOGS gene,which is suspected to cause disease.The mutation site was NM_006302.2:c.1212_1239dup,which has not been reported previously.Conclusion In this case of MOGS-CDG,the prenatal diagnostic gene profile and postnatal genetic testing showed differences,necessitating further improvement in prenatal genetic testing methods to prevent the birth of children with severe defects.