Phenotypes in children with GNAO1 encephalopathy in China.

ABSTRACT:

Background

The GNAO1 gene encodes the α-subunit (Gαo) of the heterotrimeric guanine nucleotide-binding protein (G protein). The aim of this study was to explore the clinical characteristics of patients with GNAO1 pathogenic variations.

Methods

Ten patients with pathogenic variations in GNAO1 were enrolled from the Shenzhen Children's Hospital. Clinical data from several cases previously reported from China were also included and analyzed.

Results

Twenty-seven patients with variations in GNAO1 were analyzed (10 patients from Shenzhen Children's Hospital, 17 patients from previously published studies) including 12 boys and 15 girls. The median age of onset was 3 months with moderate to severe global developmental delay. Nineteen different

SUBMITTER: Li Y 

PROVIDER: S-EPMC10495587 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature