PubMed ID | Description |
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15706485 | Roelfsema et al (2005) reported 3 patients with Rubinstein-Taybi syndrome with de novo loss of function mutations, including one nonsense, one frameshift, and one deletion of exon 1. All resulted in loss of the HAT domain. |
19353645 | Foley et al (2009) reported a patient with mild Rubinstein-Taybi syndrome with a de novo deletion of exons 3-8. |
Several loss of function mutations, including exonic deletions, frameshift, and nonsense mutations, are catalogued in the LOVD EP300 mutation database. These are associated with Rubinstein-Taybi syndrome and may cause a milder phenotype than mutations in CREBBP. See GeneReviews. Additional case reports include PMIDs 20717166 and 17299436.