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Is Rubinstein-Taybi Syndrome Genetic?
- Heritability
- ~100%
- Inheritance
- autosomal-dominant
- Key genes
- CREBBP EP300
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A syndrome causing intellectual disability broad thumbs and toes and distinctive facial features due to chromatin remodelling gene mutations.
How Genetic Is Rubinstein-Taybi Syndrome?
Rubinstein-Taybi Syndrome has a strong genetic basis. Research estimates heritability at approximately 100%, meaning genetic factors account for the majority of variation in whether individuals develop this condition.
Key genes associated with Rubinstein-Taybi Syndrome: CREBBP EP300. Variants in these genes have been identified through genome-wide association studies (GWAS) and clinical research as influencing susceptibility or severity.
Source: MedlinePlus Genetics
Does Family History Matter for Rubinstein-Taybi Syndrome?
Yes — family history is one of the strongest predictors of Rubinstein-Taybi Syndrome. If a first-degree relative (parent, sibling, or child) has been diagnosed, your own risk may be significantly elevated. Discussing your family history with a healthcare provider or genetic counsellor is strongly recommended.
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