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CREBBP gene–related syndrome most commonly refers to Rubinstein-Taybi syndrome (RTS), a rare genetic condition caused by mutations or deletions in the CREBBP gene.
What is the CREBBP gene?
The CREBBP (CREB-binding protein) gene provides instructions for making a protein that helps regulate:
Gene expression
Cell growth and division
Embryonic development
It acts as a transcriptional coactivator, meaning it helps turn other genes on and off properly. When this gene is altered, normal development is disrupted.
Rubinstein-Taybi Syndrome (RTS)
Most cases of RTS are caused by mutations in:
CREBBP (majority of cases)
Less commonly, the EP300 gene
Key Features
Physical characteristics
Broad thumbs and big toes
Short stature
Distinct facial features (arched eyebrows, downslanting eyes, beaked nose)
Developmental features
Intellectual disability (mild to moderate in most cases)
Delayed speech and motor skills
Learning difficulties
Medical concerns
Heart defects
Kidney abnormalities
Eye problems
Increased risk of certain tumors
Feeding difficulties in infancy
Inheritance Pattern
Usually sporadic (new mutation)
Rarely inherited in an autosomal dominant manner
Diagnosis
Diagnosis is based on:
Clinical features
Genetic testing confirming a CREBBP mutation or deletion
Management
There is no cure, but treatment focuses on:
Early intervention (speech, physical, occupational therapy)
Monitoring for heart, kidney, and eye problems
Educational support
Regular developmental follow-up
If you'd like, I can also explain:
The difference between CREBBP vs EP300-related disease
Life expectancy and long-term outlook
Genetic counseling implications
Tumor risks in more detail
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