12 research outputs found

    Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

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    SummaryWe have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124 autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected parents, and, in most kindreds, an unaffected sibling. We find significant association of ASD with de novo duplications of 7q11.23, where the reciprocal deletion causes Williams-Beuren syndrome, characterized by a highly social personality. We identify rare recurrent de novo CNVs at five additional regions, including 16p13.2 (encompassing genes USP7 and C16orf72) and Cadherin 13, and implement a rigorous approach to evaluating the statistical significance of these observations. Overall, large de novo CNVs, particularly those encompassing multiple genes, confer substantial risks (OR = 5.6; CI = 2.6–12.0, p = 2.4 × 10-7). We estimate there are 130–234 ASD-related CNV regions in the human genome and present compelling evidence, based on cumulative data, for association of rare de novo events at 7q11.23, 15q11.2-13.1, 16p11.2, and Neurexin 1

    El uso arbitrario Estímulos para enseñar Di-Do Correspondencia a niños con autismo

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    Los estudios de decir-hacer la correspondencia, que normalmente se define como una persona haciendo lo que él / ella dijo que iban a hacer e informar con precisión lo que hicieron, se han centrado en los métodos de entrenamiento para la adquisición eficiente. Las investigaciones anteriores han sugerido que el uso de estímulos arbitrarios durante el entrenamiento digamos-do puede ayudar a facilitar el proceso de adquisición. El presente estudio se extendió en la investigación anterior mediante la formación partido a la muestra (MTS) para crear clases de estímulo utilizando formas asignados arbitrariamente. Estos estímulos se utilizaron luego en la formación de la correspondencia, junto con la retroalimentación correctiva, modelado y múltiples ejemplos para enseñar la correspondencia y no correspondencia de los niños diagnosticados con autismo. Los datos de cinco participantes fueron mezclados y sugiere que puede ser necesaria más investigación sobre la formación de la correspondencia verbal y un entrenamiento más intensivo para los niños con autismo

    Unprecedented diversity of genotypic revertants in lymphocytes of a patient with Wiskott-Aldrich syndrome

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    Spontaneous somatic reversions of inherited mutations are poorly understood phenomena that are thought to occur uncommonly in a variety of genetic disorders. When molecularly characterized, revertant cells have rarely exhibited more than one revertant genotype per patient. We analyzed individual allospecific T-cell clones derived from a Wiskott-Aldrich syndrome (WAS) patient identified by flow cytometry to have 10% to 15% revertant, WAS protein–expressing lymphocytes in his blood. Genotypic analysis of the clones revealed a remarkable diversity of deletions and base substitutions resulting in at least 34 different revertant genotypes that restored expression of WASp. A large fraction of these revertant genotypes were also identified in primary T cells purified from peripheral blood. These data suggest that the use of sensitive methods may reveal the presence of wide arrays of individual genotypic revertants in WAS patients and offer opportunities for further understanding of their occurrence
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