Article
A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation.
BMC pregnancy and childbirth - 22 Feb 2023
Chenhan Zheng, Jun Shao, Yang Ding, Linliang Yin, Xiaowen Gu, Chunya Ji, Xuedong Deng
Abstract excerpt
Aicardi-Goutières syndrome (AGS) is a rare genetic disorder involving the central nervous system and autoimmune abnormalities, leading to severe intellectual and physical disability with poor prognosis. AGS has a phenotype similar to intrauterine viral infection, which often leads to delays in genetic counseling. In this study, we report a case with a prenatal diagnosis of AGS. The first fetal ultrasound detected...
Topics
- Humans
- Pregnancy
- Female
- Nervous System Malformations
- Autoimmune Diseases of the Nervous System
- Phosphoproteins
- Microcephaly
- Mutation