Rubinstein-Taybi Syndrome (RTS) Type 1, which is caused by CBP mutations, for which over 500 different variations have been documented, accounts for approximately 55% of all cases, whereas RTS Type 2, which is caused by any of the nearly 120 different types of p300 mutations, accounts for only 8% of diagnosed cases.  The majority of these mutations have been show to cause loss of function of the gene via deletions, point or truncating mutations. Statistics indicate that RTS patients have and increased risk of cancer, with approximately 5% of that attributable to pediatric malignancies originating from the neural crest. Individuals with RTS frequently have skeletal abnormalities, neuroanatomical defects, and mental impairments including lower levels of intelligence, attention deficits and impaired motor coordination.

• Van Gils J, Magdinier F, Fergelot P, Lacombe D (June 2021). “Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder”. Genes. 12 (7): 968. doi:10.3390/genes12070968. PMC 8303114. PMID 34202860.
• Attar N, Kurdistani SK (March 2017). “Exploitation of EP300 and CREBBP Lysine Acetyltransferases by Cancer”. Cold Spring Harbor Perspectives in Medicine. 7 (3): a026534. doi:10.1101/cshperspect.a026534. PMC 5334244. PMID 27881443.
• Dutto I, Scalera C, Prosperi E (April 2018). “CREBBP and p300 lysine acetyl transferases in the DNA damage response”. Cellular and Molecular Life Sciences. 75 (8): 1325–1338. doi:10.1007/s00018-017-2717-4. PMID 29170789. S2CID 3951961.