Genetics of childhood disorders: XLVII. Autism, part 6: duplication and inherited susceptibility of chromosome 15q11-q13 genes in autism.
نویسندگان
چکیده
253 Autism is a neuropsychiatric disorder that exhibits high heritability and is considered to have a complex genetic etiology. A sibling of a child with autism has a 25 to 50 times greater risk for developing autism than someone in the general population. Autism displays both clinical and genetic heterogeneity, as reviewed in last month’s column. A different set of genes may confer risk in different families or individuals (genetic heterogeneity), and different siblings in a given family may have a different clinical Genetics of Childhood Disorders: XLVII. Autism, Part 6: Duplication and Inherited Susceptibility of Chromosome 15q11-q13 Genes in Autism
منابع مشابه
Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 region.
Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome (PWS/AS) critical region have been described in individuals with autism. Maternal duplications and linkage disequilibrium in families with autism suggest the existence of a susceptibility locus at 15q11-q13. Here, we describe a 6-year-old girl diagnosed with autism, developmental delay, and delayed expressive and receptive language...
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New insights into biological factors that underlie autism may be gained by comparing autism to other neurodevelopmental disorders that have autistic features and relatively well-delineated genetic etiologies or neurobiological findings. This review moves beyond global diagnoses of autism and instead uses an endophenotypic approach to compare specific clusters of autistic symptomatology to featu...
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Although the etiology of autism remains largely unknown, cytogenetic and genetic studies have implicated maternal copy number gains of 15q11-q13 in 1-3% of autism cases. In order to understand how maternal 15q duplication leads to dysregulation of gene expression and altered chromatin interactions, we used microcell-mediated chromosome transfer to generate a novel maternal 15q duplication model...
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BACKGROUND Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to asses...
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ورودعنوان ژورنال:
- Journal of the American Academy of Child and Adolescent Psychiatry
دوره 42 2 شماره
صفحات -
تاریخ انتشار 2003