Síndrome de Rubinstein-Taybi, genética e clínica: uma revisão integrativa
Rubinstein-Taybi syndrome, genetic and clinic: an integrative review
DOI:
https://doi.org/10.34119/bjhrv5n5-309Keywords:
doença rara, epigenética, atraso mentalAbstract
Introdução: A Síndrome de Rubinstein-Taybi é uma doença genética rara, com amplo espectro fenotípico. É conhecida classicamente por sua alteração nos genes CREBBP e EP300 e clinicamente, pelo atraso intelectual, microcefalia, fácies típica, hálux alargado e alterações cognitivas. Entretanto, há uma variedade de quadros clínicos e genéticos muito ampla e pouco difundidas, o que dificulta o diagnóstico. Nesse sentido, esta revisão tem o objetivo de apresentar os diversos achados clínicos e facilitar o diagnóstico. Além disso, expõe os aspectos genéticos e a mutação mais frequente encontrada. Metodologia: foi realizada uma revisão integrativa, com o método PRISMA, com o intuito de demonstrar os principais aspectos genéticos e clínicos da síndrome de Rubinstein-Taybi, com a seleção final de 25 artigos. Resultados: foi observada uma clínica muito variada, com destaque para alterações não citadas no quadro clínico clássico e complicações em diversos sistemas. Na parte genética, foi encontrada maior mutação no gene CREBBP em relação ao EP300. Discussão: não foi possível relacionar o quadro genético com os fenótipos de forma muito específica.
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