However, the significant reduction of binding capacity to MAGUKs suggests that the p.S905F variant in ADAM22 represents a partial loss-of-function variant and the corresponding bi-allelic (homozygous) variant is causative of brain disorders in the patient, akin to cases of bi-allelic variants due to the compound heterozygosity or homozygosity of ADAM22 variants in progressive encephalopathy.14-16 The residual level of interaction capacity may thus explain milder symptoms of the patient presented in this study. The gene discussed is ADAM22; the disease is Progressive encephalopathy.