It remains to be seen whether specific ADNP mutations may be associated with non-syndromic autism. The phenotypes of the patients reported here, range from severe autism, co-morbid with ID to less severely affected patients. It is very well possible that the phenotype in larger cohorts of patients with truncating or less damaging ADNP mutations will expand into a much milder range. Seemingly, support of this hypothesis comes from the presence of a likely pathogenic ADNP mutation in the ESP cohort. However, care should be taken in treating ESP as a healthy control cohort with regard to neurological disorders. This is illustrated by multiple likely pathogenic variants in several other genes involved in SWI/SNF related syndromes (Table III), we identified in the ESP database by in silico analysis [Tsurusaki et al., 2012; Kircher et al., 2014]. Unfortunately, detailed phenotypic information is not available on the individuals included in these control databases. The detailed molecular and phenotypical characterization of larger patient cohorts extending in all age groups is mandatory for a better understanding of the role of ADNP mutations in human disease.
