Rubinstein-Taybi syndrome (CREBBP, EP300)

2011

1.2 OMIM# of the disease180849.1.3 Name of the analyzed genes or DNA/chromosome segmentsCREBBP, EP300 (E1A binding protein p300).1.4 OMIM# of the genes600140 (CREBBP), 602700 (EP300).1.5 Mutational spectrumMainly frameshift, nonsense, splice site and missense mutations. Lessfrequently large deletions (one or more exons) and rarely balancedinversions and translocations. Mutations are heterozygous, and mosaicmutations have been described. At present, more than 100 pathogenicmutations are known for the two genes together, but mutations inEP300 are much less common (only 11 so far).