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

ABSTRACT:

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

SUBMITTER: Zhang S 

PROVIDER: S-EPMC11427897 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature