Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

ABSTRACT:

Purpose

Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene.

Methods

Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. We collected detailed genotype and phenotype information for each affected individual.

Results

We identified 16 unique variants in GNAI1 in 24 affected individuals; 23 occurred de

SUBMITTER: Muir AM 

PROVIDER: S-EPMC8107131 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature