Volume 20 Issue 8
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Article Navigation >  Chinese Journal of General Practice  > 2022  >  20(8): 1446-1448
LAI Pan-jian, WANG Da-yan, LI Xiao-bing. A case report of infantile Alexander disease caused by GFAP gene c.1249delG mutation[J]. Chinese Journal of General Practice, 2022, 20(8): 1446-1448. doi: 10.16766/j.cnki.issn.1674-4152.002619
Citation: LAI Pan-jian, WANG Da-yan, LI Xiao-bing. A case report of infantile Alexander disease caused by GFAP gene c.1249delG mutation[J]. Chinese Journal of General Practice, 2022, 20(8): 1446-1448. doi: 10.16766/j.cnki.issn.1674-4152.002619
shu

A case report of infantile Alexander disease caused by GFAP gene c.1249delG mutation

doi: 10.16766/j.cnki.issn.1674-4152.002619

  • Jinhua Maternal and Child Health Care Hospital, Jinhua, Zhejiang 321000, China

Funds:

 2020KY342

  • Received Date: 2021-06-20
    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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