Keeping these caveats in mind, several results from our study are potentially relevant to autism risk. The function of MACROD2 (previously c20orf133) is largely unknown. The protein contains a MACRO domain which is a high-affinity ADP-ribose-binding domain that is important in multiple biological processes. Recent genome-wide studies have highlighted copy number variation at MACROD2 in an individual with schizophrenia (27), brain infarct (28) and brain volume in multiple sclerosis (29). Also ∼500 kb from the association signal observed for ASD is FLRT3, which is embedded in MACROD2. FLRT3 is a cell adhesion molecule with functions in neuronal development.
