Detection of autism spectrum disorder-related pathogenic trio variants by a novel structure-based approach

ConclusionsHere we show that a combination of structure-based computational predictions and experimental validation can be employed to reliably predict whether missense mutations in the humanTRIO gene impede TRIO protein function and compromise TRIO ’s role in glutamatergic synapse regulation. With the growing accessibility of genome sequencing, the use of such tools in the accurate identification of pathological mutations will be instrumental in diagnostics of ASD/ID.
Source: Molecular Autism - Category: Molecular Biology Source Type: research