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Background  Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.    Case presentation  We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the  CREBBP  gene for a sequence variant designated c.4963del, which is predicted to result in premature protein termination p.Leu1655Cysfs*89. The child and his father were also found to be heterozygous in the  EP300  gene for a sequence variant designated c.586A &gt; G, which is predicted to result in the amino-acid substitution p.Ile196Val.    Conclusion  Our report expands the clinical spectrum of RSTS to include several distinct facial and limb features. The variant of the  CREBBP  gene is known to be causative of RSTS Type 1. The variant in the  EP300  gene is benign since the father carried the same variant and exhibited no abnormalities. However, functional studies are required to investigate if this benign  EP300  variant influences the phenotype in the presence of disease-causing  CREBBP  gene mutations.

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report