摘要
本文报道1例PMM2基因新变异所致先天性糖基化障碍(PMM2-CDG)的临床特征及PMM2基因突变特点。患儿女,9个月,主要表现为精神运动发育落后伴肝酶异常,双耳稍大,内斜视(左),四肢肌张力稍高。Sanger测序结果显示患儿PMM2基因存在两处杂合变异点,分别为外显子5的c.430T>C(p.F144L),外显子7的c.556G>A(p.G186R),前者来自父亲,为已知热点致病变异,后者来自母亲,为未报道新变异。对于临床上不明原因的多脏器损害,特别是婴幼儿,合并全面性发育迟缓、神经系统疾病、肝功能损害、眼睛异常、外耳异常等,应考虑本病的可能,PMM2基因检测有助诊断,并可根据突变位点评估预后。
This article reports the clinical features of one case of congenital disorders of glycosylation caused by new mutations of the PMM2 gene and the features of PMM2 gene mutation(PMM2-CDG).The child was a 9-month old girl who presented with psychomotor retardation,abnormal liver enzyme,large ears,esotropia of left eye and hypermyotonia.Two heterozygous mutation points in the child's PMM2 gene was found by Sanger sequencing:c.430T>C(p.F144L)in exon 5 and c.556G>A(p.G186R)in exon 7.The former mutation came from her father and was a known hot-pathogenic mutation,and the latter came from her mother and was a novel mutation unreported.PMM2-CDG should be considered at the presence of multiple organ damage of unknown causes,especially in infants and young children,which is combined with general developmental delay,neurological disease,liver damage,eye abnormalities,and ear abnormalities,etc.The PMM2 gene test is beneficial to accurate diagnosis,The outcome can be evaluated based on the mutation site.
作者
张媛
陈光福
刘文兰
ZHANG Yuan;CHEN Guangfu;LIU Wenlan(Department of Pediatirics, the First Affiliated Hospital of Shenzhen University, the Second People's Hospital, Shenzhen 518000, China)
出处
《中国中西医结合儿科学》
2020年第4期357-361,共5页
Chinese Pediatrics of Integrated Traditional and Western Medicine
