Monies et al. (2017) discussed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 9-year-old female, presented with intellectual disability, autism spectrum disorder and ADHD. Her parents were consanguineous and she had a family history of this phenotype. Using whole exome sequencing, a homozygous mutation (c.2296C>T, p.R766C) was identified in exon 14 of the patient’s CLSTN2 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant and was predicted to be deleterious; and the mouse orthologue of the gene had been implicated in cognition. The authors noted that further studies are required to independently confirm this association.