Many complex diseases have been identified by exome sequencing, such as genetic disease OHDO syndrome (KAT6B) [28], CTNNB1 mutation in craniopharyngioma patients [29], point mutation of dilated cardiomyopathy GATAD1 [30], etc. Jenny Do et al. [25] found that 3'-UTR mutations in SCARB2 may be associated with Gaucher disease and myoclonic epilepsy. The gene discussed is GATAD1; the disease is Gaucher disease.