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      Strong association of de novo copy number mutations with autism.

      Science (New York, N.Y.)

      Siblings, Asperger Syndrome, genetics, Autistic Disorder, Case-Control Studies, Child, Cytogenetic Analysis, Female, Gene Deletion, Gene Dosage, Gene Duplication, Genetic Predisposition to Disease, Genome, Human, Germ-Line Mutation, Humans, In Situ Hybridization, Fluorescence, Male, Markov Chains, Microsatellite Repeats, Mutation, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Parents

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          Abstract

          We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized.

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          Author and article information

          Journal
          17363630
          2993504
          10.1126/science.1138659

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