Capra et al. [26] reported that a boy carrying a maternally inherited 329.5-kb 17p13.3 duplication, including BHLHA9, YWHAE, and CRK, presented with mild dysmorphic phenotype, autism, and mental retardation, while his mother was affected by a bipolar and borderline disorder and was addicted to alcohol. This evidence concerns the gene BHLHA9 and autism.