两个JAG1基因突变相关的双侧多囊性发育不良肾胎儿家系的遗传学分析
Genetic analysis in 2 pedigrees with bilateral multicystic dysplastic kid-ney associated with JAG1 mutation
杨娟 1姚光辉 2魏振玲 1吴庆华2
作者信息
- 1. 郑州大学第一附属医院超声科 郑州 450052
- 2. 郑州大学第一附属医院遗传与产前诊断中心 郑州 450052
- 折叠
摘要
目的:探讨两个双侧多囊性发育不良肾(MCDK)家系的遗传学病因,为两个家系的遗传咨询及再次妊娠指导提供依据.方法:对两个16+周和18+周胎儿行详细超声检查,发现其双侧肾脏呈多囊性发育不良改变,经遗传咨询后胎儿父母决定终止妊娠.取胎儿皮肤进行全外显子组测序,并取父母外周血,采用PCR和Sanger测序验证基因突变位点.结果:全外显子组测序提示家系 1 胎儿携带JAG1 基因c.2078_2079delGT(p.Cys693fs)杂合突变,该突变来自母亲;家系2 胎儿携带c.3548_3552delAGAAG(p.Glu1183fs)杂合突变,该突变来源于母亲.结合超声表现及家族史等,这两个双侧MCDK家系的病因为JAG1 基因突变相关的Alagille综合征.结论:两个双侧MCDK家系最终确诊为Alagille综合征.
Abstract
Aim:To clarify the genetic etiology in 2 pedigrees with bilateral multicystic dysplastic kidney(MCDK)and to provide genetic counselling for further pregnancy.Methods:Two fetuses of gestational age 16+weeks and 18+weeks were detected by ultrasound examination,and found manifestation of bilateral MCDK.The parents determined to terminate the pregnancy after genetic counselling.Whole exome sequencing was performed by using the skin tissue collected from the fetuses.PCR and Sanger sequencing were used to confirm the results by using the skin samples of fetuses and blood samples of the parents.Results:The fetus in pedigree 1 carried a frameshift mutation of JAG1 gene c.2078_2079delGT(p.Cys693fs),inherited from the mother.The fetus in pedigree 2 carried a frameshift mutation of JAG1 gene c.3548_3552delAGAAG(p.Glu1183fs)derived from the mother.Combined with the ultrasound manifestations and family histories,the fetuses with bilateral MCDK in these 2 pedigrees were diagnosed as Alagille syndrome(ALGS).Conclusion:The genet-ic etiology of the fetuses in these 2 pedigrees with bilateral MCDK was confirmed as ALGS.
关键词
双侧多囊性发育不良肾/JAG1/Alagille综合征/产前诊断Key words
bilateral multicystic dysplastic kidney/JAG1/Alagille syndrome/prenatal diagnosis引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据