The data presented show that mutations in the ADNP gene cause syndromic autism. These findings are in line with the observations by others that genes involved in the chromatin remodeling pathway are over represented in autism/ID. In contrast to related disorders caused by mutations in the SWI/SNF genes SMARCB1, SMARCA4, SMARCA2, SMARCE1, ARID1A, and ARID1B, ADNP is not part of the core nBAF complex, suggesting that a potentially much broader range of SWI/SNF related disorders might exist. All patients reported so far suffer from a combination of clinical characteristics that show some consistency. It should be realized though that all are in their childhood (5–12 years old) and we do not know the clinical presentation of older patients. At present the clinical heterogeneity appears too large to enable identification of additional patients on the basis of clinical selection criteria only. ADNP-related syndromic ASD seems to be more clinically heterogeneous than existing monogenic syndromes. However, this greater heterogeneity between patients with ADNP mutations might be caused by applying a more unbiased gene identification strategy. Until recently, patients were selected for screening
