None of the patients included in this study have had tumors so far, suggesting that germline alterations of CHD5, contrary to somatic alterations, do not predispose to a higher risk of tumorigenesis, as previously reported for other tumor suppressor genes, including for instance genes encoding subunits of the SWI–SNF complex or ASXL1 (Romero and Sanchez-Cespedes 2014; Carlston et al. 2017). The gene discussed is SMARCA1; the disease is neoplasm.