1例先天性糖基化障碍Id型的产前超声表现  

Prenatal ultrasound findings of congenital disorders of glycosylation type Id:a case report

作　　者：朱晨 雷彩霞 任芸芸[1] ZHU Chen;LEI Cai-xia;REN Yun-yun(Department of Ultrasound,Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200011,China;Department of Prenatal Diagnostic Center,Obstetrics and Gynecology Hospital,Fudan University,Shanghai 200011,China;Shanghai Jiai Genetics and IVF Institute,Shanghai 200011,China)

机构地区：[1]复旦大学附属妇产科医院超声科,上海200011 [2]复旦大学附属妇产科医院产前诊断中心,上海200011 [3]上海集爱遗传与不育诊疗中心,上海200011

出　　处：《复旦学报（医学版）》2024年第5期864-867,共4页Fudan University Journal of Medical Sciences

基　　金：国家重点研发计划(2023YFC2705700)。

摘　　要：先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科医院行基因检测提示为ALG3基因变异[NM_005787:c.67C>T(p.Gln23*),杂合,父源;NM_005787:c.1188G>A(p.Trp396*),杂合,母源]。本次单胎妊娠21周,我院产前超声表现为胎儿多发畸形,以小下颌、小脑蚓部缺失、后颅窝囊性占位、四肢长骨均短小、脊柱侧弯和手关节僵硬为主要表现。孕妇遂至外院引产,引产后基因检测结果证实仍为ALG3基因变异。本文重点介绍CDG-Id型的产前超声表现及遗传学特征,以提高对本病的认识。Congenital disorder of glycosylation type Id(CDG-Id)is due to a variation in the ALG3 gene that results in a defect in the encoded alpha-1,3-mannosyltransferase.The pregnant woman in this case was 32 years old,G7P1,whose fifth singleton pregnancy had fetal malformations suggested by ultrasound at another hospital.After termination of pregnancy,she came to Obstetrics and Gynecology Hospital,Fudan University for genetic testing,with the result of ALG3 gene variants[NM_005787:c.67C>T(p.Gln23*),Heterozygote,Paternal;NM_005787:c.1188G>A(p.Trp396*),Heterozygote,Maternal].In this singleton pregnancy at 21 weeks of gestation,prenatal ultrasound at our hospital demonstrated multiple fetal malformations,including micrognathia,cerebellar vermis absence,cystic occupancy of the posterior cranial fossa,all long bones of the limbs being short,scoliosis and stiffness of the finger joints as the main manifestations.The pregnancy was then terminated at another hospital,and subsequent genetic testing results confirmed that it was also due to ALG3 gene variants.This article focuses on the prenatal ultrasound manifestations and genetic features of CDG-Id,in order to improve the understanding of this disorder.

关 键 词：先天性糖基化障碍Id型(CDG-Id) ALG3基因变异 产前超声 小下颌 小脑蚓部缺失 

分 类 号：R445.1[医药卫生—影像医学与核医学]