So far, only four types of pathogenic variant (three nonsense variants: c.505C>T [p.Gln169*], c.733C>T [p.Arg245*] and c.862C>T [p.Arg288*], and one missense variant: c.1039C>T [p.Arg347Cys]) have been reported globally in patients with SASH3 deficiency (Supplementary Data 3). The gene discussed is SASH3; the disease is hyperinsulinemic hypoglycemia, familial, 4.