<i>JAG</i>1基因c.439C&gt;T无义变异致新生儿Ⅰ型Alagille综合征1例

刘松; 程锐

doi:10.16766/j.cnki.issn.1674-4152.003570

JAG1基因c.439C>T无义变异致新生儿Ⅰ型Alagille综合征1例

doi: 10.16766/j.cnki.issn.1674-4152.003570

刘松,
程锐^,

南京医科大学附属儿童医院新生儿医疗中心，江苏南京 210008

基金项目:

国家自然科学基金项目 82171705

详细信息

通讯作者:
程锐，E-mail：chengrui350@163.com

中图分类号: R722.11
计量
- 文章访问数: 37
- HTML全文浏览量: 13
- PDF下载量: 4
- 被引次数: 0
出版历程
- 收稿日期: 2023-11-11
- 网络出版日期: 2024-07-22

A case of neonatal type Ⅰ Alagille syndrome caused by nonsense mutation of JAG1 gene c.439C>T

LIU Song,
CHENG Rui^,

Medical Center of Neonatology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China

摘要

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。
- JAG1基因 /
- Alagille综合征 /
- 新生儿
Abstract: 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 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_Supporting). The newborn was diagnosed with type Ⅰ Alagille syndrome caused by a mutation in the JAG1 gene. This provides a reference basis for later diagnosis and treatment or genetic counseling.
- JAG1 gene /
- Alagille syndrome /
- Newborn

HTML全文

图 1 Ⅰ型Alagille综合征患儿胸片及彩超

注：A为胸片示第5、9胸椎呈蝴蝶形；B为彩超示主动脉缩窄。

Figure 1. Chest X-ray and color ultrasound in children with type Ⅰ Alagille syndrome

下载: 全尺寸图片幻灯片

图 2 Sanger测序验证

Figure 2. Sanger sequencing validation

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图 3 JAG1蛋白二级结构预测

注：A为野生型；B为p.Q147X变异型。

Figure 3. Prediction of the secondary structure of JAG1 protein

下载: 全尺寸图片幻灯片

图 4 JAG1蛋白空间结构

注：绿色为野生型，紫色为p.Q147X变异型。

Figure 4. 3D structure of JAG1 protein

下载: 全尺寸图片幻灯片

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