JAG1基因新发变异致Alagille综合征1例  

A case of Alagille syndrome caused by JAG1 gene mutation

作　　者：丁风娟 冷俊红 赵博文 侯菲[1] 金华[1] Ding Fengjuan;Leng Junhong;Zhao Bowen;Hou Fei;Jin Hua(Prenatal Diagnosis Center of Jinan Maternal and Child Health Hospital,Jinan 250001,China)

机构地区：[1]济南市妇幼保健院产前诊断中心,济南250001

出　　处：《国际遗传学杂志》2024年第2期119-122,共4页International Journal of Genetics

基　　金：国家重点研发计划(2021YFC1005303);济南市科技计划(2023-2-117)。

摘　　要：目的对1例超声提示胆囊未见显示、肺动脉偏窄的胎儿进行介入性产前诊断及遗传学分析,探讨相关的遗传学病因。方法采集父母外周血及胎儿羊水,进行染色体核型分析、染色体微阵列分析测序(chromosomal microarray analysis sequence,CMA-seq)及高精度医学全外显子检测。结果胎儿羊水核型分析结果未见明显异常。CMA-seq及高精度医学全外显子检测发现胎儿羊水中JAG1基因1-5号外显子缺失,其父母未携带该变异,该变异为新发。结论该案例中胎儿羊水JAG1基因1-5号外显子缺失在基因层面明确了诊断,同时该变异为新发突变,丰富了该疾病诊断基因谱。Objective To perform interventional prenatal diagnosis and genetic analysis of a fetus with no gallbladder and pulmonary artery narrowing shown by ultrasound,and to explore the related genetic etiologies.Methods Parental peripheral blood and fetal amniotic fluid were collected,and karyotype analysis,chromosomal microarray analysis sequence(CMA-seq)and high-precision medical whole exome detection were performed.Results The karyotype analysis of fetal amniotic fluid showed no obvious abnormality.CMA-seq and high-precision medical whole exome detection showed that exons 1-5 of JAG1 gene were missing in fetal amniotic fluid,and the parents did not carry the variant,and the variant was new.Conclusion In this case,the deletion of exons 1 to 5 of the JAG1 gene in fetal amniotic fluid confirmed the diagnosis at the genetic level.At the same time,the variant was a de novo mutation,which enriched the genetic spectrum of the disease diagnosis.

关 键 词：阿拉基综合征 产前诊断 全外显子检测 JAG1基因 

分 类 号：R714.5[医药卫生—妇产科学]