Case SRS84 was found to harbor a de novo deletion of 206 Kb at 19q, arr[GRCh37] 19q13.33(48192995_48399399)x1 dn, which involves the entire CRX gene associated with cone-rod retinal dystrophy-2 (MIM#120970) and partially the BICRA gene (from exon 8 to 15) associated with Coffin-Siris syndrome 12 (CSS12, MIM#619325), both autosomal dominant pathologies (Supplementary Fig. S1) (26). The gene discussed is BICRA; the disease is Coffin-Siris syndrome 12.