A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C＞T
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维普
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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_Sup-porting).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 re-lated 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 spontane-ous heterozygous mutation named c.439C＞T(p.Q147X)occurred in the JAG1 gene.This nonsense mutation leads to premature termination of the peptide chain synthesis encoding JAG1 protein.According to American College of Medical Genetics and Genomics(ACMG)guidelines,the variant was determined to be pathogenic(PVS1+PS2+PS4+PM2_Sup-porting).The newborn was diagnosed with type Ⅰ Alagille syndrome caused by a mutation in the JAG1 gene.This pro-vides a reference basis for later diagnosis and treatment or genetic counseling.
维普
万方数据
