Functional characterization of RYR3 mutations associated with neurodevelopment disorders.

We recently mapped a novel gene through whole exome sequencing in a family with a neurodevelopmental disorder. However, the success of the clinical use of such novel finding depends on the accuracy and consistency of mutations biological interpretation. Through this project, we aim to characterize RYR3 mutations functionally.We hypothesize that mutations in this gene are causative of neurodevelopmental disorders in humans. Our proposed experimental work will include cloning, vectors production, site-directed mutagenesis, and overexpression studies. We will study the effect of the mutations encountered in our cohort through immunofluorescence, immunoblotting, immunoprecipitation, Ca+ imaging (immunocytochemistry) and whole-cell recording.