Expression levels of JARID2 (A) and ATXN1 (B) in leucocytes from our four patients with deletion of one or both of these genes (Patients 1-4 and Patients 1-3 and 5, respectively), compared with eight healthy controls. JARID2 and ATXN1 levels were measured using four and three primer pairs targeting the transcripts, respectively (JARID2-1, -2, -3 and -4, and ATXN1-1, -2 and -3). Primer sequences are given in Additional file 1: Table S1). JARID2 expression level was significantly reduced in the patients compared to the controls (p ≤ 0.01), while the ATXN1 expression level was not significantly altered (p ≤ 0.1). Ctrl, Control; Pt, Patient.