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
How to order

LATEST ARTICLES

Cystic fibrosis (CF) is a life-threatening, progressive, inherited condition that causes severe damage to the body, primarily affecting the organs of...

Read more

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It affects physical growth, facial features, and cogni...

Read more

Every year on April 25th, DNA Day celebrates the discovery of DNA’s double helix and the advances we’ve made in understanding genetics. D...

Read more

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients f...

Read more

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced ...

Read more

Carrier screening is a genetic test designed to identify whether an individual carries a gene with changes (mutations) associated with inherited diso...

Read more

Trisomy 13, also known as Patau syndrome, is a genetic condition in which cells in the body have three copies of chromosome 13 instead of two. The co...

Read more

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study...

Read more

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a...

Read more

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various area...

Read more