SINDROME DE ANGELMAN. UNA ENFERMEDAD INCAPACITANTE DE LA INFANCIA
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2022-04-07
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Jaén: Universidad de Jaén
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[ES] Los pacientes con síndrome de Angelman, se ven afectados por una discapacidad intelectual grave con ausencia de habla, rasgos craneofaciales dismórficos distintivos, ataxia y un fenotipo conductual
característico. Este síndrome está causado por la falta de expresión en las neuronas del gen UBE3A, que se encuentra en la región impresa 15q11.2-q13. La pérdida funcional de UBE3A se debe a la deleción 15q11.2-q13, mutaciones en el gen UBE3A, disomía uniparental paterna y defectos de impresión genómica.
[EN] Patients with Angelman syndrome are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. This syndrome is caused by the lack of expression in neurons of the UBE3A gene, which is found in the imprinted region 15q11.2-q13. Functional loss of UBE3A is due to the 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy, and genomic imprinting defects.
[EN] Patients with Angelman syndrome are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. This syndrome is caused by the lack of expression in neurons of the UBE3A gene, which is found in the imprinted region 15q11.2-q13. Functional loss of UBE3A is due to the 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy, and genomic imprinting defects.