The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.

ABSTRACT:

Background

Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males.

Objective

To describe a new and consistent phenotype in 4 affected male patients associated with an undescribed deleterious variant in GRIA3.

Methods

We evaluated a large French family in which segregate a singular phenotype according to an apparent X-linked mode of inheritance. Molecular analyses using next generation sequencing and in vitro functional studies using 2-electrode voltage clamp recordings on Xenopus laevis oocytes and a β-lactamase reporter ass

SUBMITTER: Piard J 

PROVIDER: S-EPMC9190290 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature