SCIENTIFIC BACKGROUND

CREBBP, EP300

Scientific Background

Rubinstein-Taybi syndrome (RTS) is characterized by symptoms of low intelligence, postnatal growth delay with reduced final height and microcephaly. Distinctive facial features are seen, such as a deep hairline, broad, arched eyebrows, outwards and downward sloping eyes, base of the columella below the nostrils when seen in profile, retrognathia, and dental anomalies. Additionally, broad, often radially angled thumbs and broad big toes are seen. When laughing, there is a characteristic facial expression with almost closed eyes. Seizures occur frequently. RTS usually occurs sporadically, and the prevalence is estimated at approximately 1:100,000‑125,000.

 

Pathogenic variants in the CREBBP gene, which codes for the cyclic AMP-regulated enhancer binding protein, are a known cause of RTS (approximately 50-70%). In addition, pathogenic variants have been described in the EP300 gene (approximately 5%), which codes for the E1A binding protein p300. These two proteins are transcriptional co-activators involved in many signaling pathways within the cell (e.g., DNA repair, growth, differentiation and apoptosis).

 

References

Korzus 2017, Adv Exp Med Biol 978:39 / Fergelot et al. 2016, Am J Med Genet A 170: 3069 / Milani et al. 2015, Pediatr 41:4 / Stevens et al. 2014, Gene reviews / Bartsch et al. 2010, Am J Med Genet 152A:181 / Schorry et al. 2008, Am J Med Genet 146A:2512

GENES

CREBBP, EP300
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