Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.

Laura E Schultz-RogersIkuo MasuhoFilippo Pinto E VairoChristopher T SchmitzTanya L SchwabKarl J ClarkLauren GundersonPavel N PichurinKlaas WierengaKirill A MartemyanovEric W Klee

Published in: Molecular genetics & genomic medicine (2020)

Here, we report two patients with functionally confirmed loss of function variants in GNB1 and neurodevelopmental phenotypes including intellectual disability, hypotonia, and seizures in one patient. These results suggest haploinsufficiency of GNB1 is a mechanism for neurodevelopmental disorders in humans.

Keyphrases

intellectual disability
autism spectrum disorder
case report
copy number
gene expression
temporal lobe epilepsy