However, the observed methylation profile suggested Rubinstein-Taybi syndrome 1 (RSTS1) (OMIM: 180849), which is associated with the EP300 partner and paralog, CREBBP. This result might suggest that this variant has unexpected effects on the function of the CREBBP/EP300 acetyltransferase complex. The gene discussed is CREBBP; the disease is otopalatodigital syndrome type 1.