Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

ABSTRACT:

Objective

To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships.

Methods

We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model.

Results

The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. We attributed the same variant in two siblings to parental mosaicism. Patients initially presented with seizures beginning in the first 3 months of life (8/14), developmental delay (4/14), hypotonia (1/14), or movement disorder (1/14). All patie

SUBMITTER: Kelly M 

PROVIDER: S-EPMC6452443 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature