Monies et al. (2017) analyzed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 16-year-old male, suffered from seizures, retinitis pigmentosa and obesity. His parents were consanguineous and he had a family history of this phenotype. Whole exome sequencing helped identify a dual molecular diagnosis in this patient. A homozygous mutation (c.773T>G, p.L258W) was found in exon 8 of the patient’s RLBP1 gene, associated with Bothnia retinal dystrophy. The patient also had a heterozygous variant (c.1471C>T, p.R491X) in exon 7 of the SYT9 gene and this was suggested to be associated with epilepsy. The SYT9 mutation was considered a candidate for pathogenicity as it was a novel variant predicted to be deleterious; and its deficiency in mice led to severely impaired synaptic transmission. The authors noted that dual molecular diagnoses were rare and only occurred in 1.5% of the cohort.