gene as well as truncating BAF250B mutations in sporadic ID patients with similar clinical features as above (Hoyer et al., 2012; Halgren et al., 2012); in one of the studies, inactivating BAF250B deletions were found in 8/887 (0.9%) of the patient cohort (Hoyer et al., 2012), making it the single most frequently mutated gene in idiopathic ID. All BAF250B legions are predicted to abolish wild-type protein expression; as outlined below, this is a recurrent theme in neurologic disorders and indicates a dosage-sensitive role of BAF250B in the CNS.
