Molecular characteristics

The ADNP gene was first identified as a vasoactive intestinal peptide (VIP) responsive gene. The ADNP protein contains 9 zinc fingers and a homeobox domain, suggesting a firm role in embryonic development. It also contains a PxVxL binding motif for HP1α and an ARKS motif, both located in the homeobox domain. ADNP interacts with BRG1, BAF250A and BAF170, all members of the BAF complex. Mutations in ADNP can be identified using targeted or genome-wide sequencing technology. Most mutations reported so far in patients are de novo truncating or frameshift mutations. Prenatal testing is technically feasible, but the likelihood of recurrence in families who have had an affected child is considered low based upon the current knowledge.