Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China  

作　　者：Shen Zhang Weihua Zhang Changhong Ding Xiaotun Ren Fang Fang Yun Wu 

机构地区：[1]Department of Neurology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing 100045,China

出　　处：《Pediatric Investigation》2024年第3期193-200,共8页儿科学研究(英文)

摘　　要：Importance:Aicardi-Goutières syndrome(AGS)is a rare genetic disorder mainly affecting the central nervous system and autoimmunity.However,research on AGS among Chinese patients is limited.Objective:To summarize the neurologic phenotypes and genetic causes in pediatric AGS patients,providing insights for early recognition and diagnosis in the Chinese population.Methods:Clinical features and neuroimaging results of the patients diagnosed with AGS from Beijing Children’s Hospital between January 2018 and January 2022 were collected.Whole exome sequencing was used for genetic analysis.Results:A total of 15 patients was included,all presenting with various neurological symptoms,including developmental delay(100%),motor skill impairment(100%),language disability(78.6%),dystonia(93.3%),microcephaly(73.3%),sleep disorders(26.7%),regression(20.0%),vessel disease(6.7%),and epilepsy(6.7%).Neuroimaging revealed intracranial calcification(86.7%),cerebral atrophy(73.3%),and leukodystrophy(73.3%).Seven genes were identified,with TREX1 being the most common(40.0%,6/15),followed by IFIH1(20.0%,3/15).Variant c.294dupA(p.C99Mfs*3)was detected in four unrelated patients,accounting for 66.7%(4/6)patients with the TREX1 variant.A literature review showed that TREX1 gene mutations in 35.6%(21/59)of AGS patients among the Chinese population.Interpretation:Neurological symptoms are the most prevalent and severe presentation of AGS.Diagnosis may be considered when symptoms such as developmental delay,dystonia,microcephaly,brain calcification,and leukodystrophy emerge.TREX1 mutations are predominant in the Chinese population.

关 键 词：Aicardi-Goutières syndrome Developmental delay LEUKODYSTROPHY Neurophenotype Whole exome sequencing 

分 类 号：R725.9[医药卫生—儿科]