| 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. DOI: 10.16766/j.cnki.issn.1674-4152.002619 |
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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： | <正>亚历山大病(Alexander disease, AxD)是一种罕见的进行性脑白质病，是首个被发现的细胞病，为编码胶质纤维酸性蛋白的GFAP基因突变导致的常染色体显性遗传病[1]。组织病理学检查，主要是由GFAP组成的Rosental纤维，它是由星形胶质细胞内泛素化而形成[2]。目前还是采取通过发病年龄来区分，将其分成婴幼儿型、少年型和成人型，其中以婴幼儿型亚历山大病最为常见，临床特征是大头畸形，精神运动发育迟缓，
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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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