| GFAP基因c.1249delG变异引起的婴儿型亚历山大病1例 |
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| 引用本文： | 赖盼建,王大燕,李小兵.GFAP基因c.1249delG变异引起的婴儿型亚历山大病1例[J].中华全科医学,2022,20(8):1446-1448. |
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| 作者姓名： | 赖盼建 王大燕 李小兵 |
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| 作者单位： | 金华市妇幼保健院，浙江 金华 321000 |
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| 基金项目： | 浙江省医药卫生科技计划项目2020KY342 |
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| 摘 要： | 探讨婴儿型亚历山大病的遗传性特征。对原因不明的反复抽搐、合并脑白质异常的患者进行高通量测序全外显组测序，筛选出致病基因，最后通过Sanger测序在家系成员中验证基因突变。结果在患者中检测到GFAP基因变异c.1249delG（p.Asp417MetfsTer15）。提示GFAP基因c.1249delG的变异可以引起中国人婴儿型亚历山大病。
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| 关 键 词： | 亚历山大病 基因变异 婴儿型 |
| 收稿时间： | 2021-06-20 |
A case report of infantile Alexander disease caused by GFAP gene c.1249delG mutation |
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| Affiliation: | Jinhua Maternal and Child Health Care Hospital, Jinhua, Zhejiang 321000, China |
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| Abstract: | To discuss genetic characteristics of infantile Alexandria disease. Patients with unexplained repeated convulsions and abnormal white matter were subjected to high-throughput sequencing and full-exome sequencing to screen for pathogenic genes. Finally, gene mutations were verified in family members by Sanger sequencing. A GFAP gene mutation c.1249delG (p.Asp417MetfsTer15) was detected in patients. It indicates that the GFAP gene c.1249delG mutation can cause infantile Alexandria disease in Chinese. |
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