CNBP and myotonic dystrophy type 1: ASD has also been reported as a symptom of myotonic dystrophy type 1 (DM1), a rare genetic disorder caused by a RE in DMPK. Here we show that applying a standard RE screening pipeline to Family A resulted in an unexpected diagnosis of myotonic dystrophy type 2 (DM2), caused by a CCTG repeat expansion in CNBP [5], in a sub-branch of the family.