A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency

The Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare developmental disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, and mental and growth deficiency. It affects equally males and females, with prevalence of 1:100.000 to 1:125.000 liveborn infants. Mutations in the cyclic adenosine monophosphate response element-binding protein (CREB)-binding protein (CREBBP) or in the E1A-associated protein p300 (EP300) have been demonstrated in 55% (RSTS1) and up to 8% of the patients (RSTS2), respectively. This article is protected by copyright. All rights reserved.