JAG1基因c.439C>T无义变异致新生儿Ⅰ型Alagille综合征1例  

A case of neonatal typeⅠAlagille syndrome caused by nonsense mutation of JAG 1 gene c.439C>T

作　　者：刘松 程锐[1] LIU Song;CHENG Rui(Medical Center of Neonatology,Children's Hospital of Nanjing Medical University,Nanjing,Jiangsu 210008,China)

机构地区：[1]南京医科大学附属儿童医院新生儿医疗中心,江苏南京210008

出　　处：《中华全科医学》2024年第6期1077-1080,共4页Chinese Journal of General Practice

基　　金：国家自然科学基金项目(82171705)。

摘　　要：对1例疑似Alagille综合征的新生儿进行临床和遗传学分析,以明确致病原因。收集患儿临床资料并提取外周血DNA,利用目标基因捕获技术进行相关基因变异检测,Sanger测序验证变异来源。患儿以胆汁淤积、先天性心脏疾病和蝴蝶状椎骨为主要临床表现。基因测序显示患儿JAG1基因存在自发性c.439C>T(p.Q147X)杂合变异,该变异为无义变异,致编码JAG1蛋白的多肽链合成提前终止,依据美国医学遗传学与基因组学学会(American College of Medical Genetics and Genomics,ACMG)指南判定为致病性变异(PVS1+PS2+PS4+PM2_Supporting)。该新生儿为JAG1基因变异导致的Ⅰ型Alagille综合征,为后期诊疗或遗传咨询提供了参考依据。To explore the clinical and genetic characteristics of a newborn suspected of Alagille syndrome.The clinical data and peripheral blood DNA of the newborn were collected.The target gene capture technology was used to detect related gene mutations,and the source of mutations was verified by Sanger sequencing.The main clinical manifestations of this newborn were cholestasis,congenital heart disease,and butterfly vertebra.Gene sequencing showed that a spontaneous heterozygous mutation named c.439C>T(p.Q147X)occurred in the JAG 1 gene.This nonsense mutation leads to premature termination of the peptide chain synthesis encoding JAG 1 protein.According to American College of Medical Genetics and Genomics(ACMG)guidelines,the variant was determined to be pathogenic(PVS1+PS2+PS4+PM2_Supporting).The newborn was diagnosed with typeⅠAlagille syndrome caused by a mutation in the JAG 1 gene.This provides a reference basis for later diagnosis and treatment or genetic counseling.

关 键 词：JAG1基因 ALAGILLE综合征 新生儿 

分 类 号：R722.11[医药卫生—儿科]