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Strong Association of De Novo Copy Number Mutations with Autism.
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- Author(s): Sebat, Jonathan; Lakshmi, B.; Malhotra, Dheeraj; Troge, Jennifer; Lese-Martin, Christa; Walsh, Tom; Yamrom, Boris; Yoon, Seungtai; Krasnitz, Alex; Kendall, Jude; Leotta, Anthony; Pai, Deepa; Zhang, Ray; Yoon-Ha Lee; Hicks, James; Spence, Sarah J.; Lee, Annette T.; Puura, Kaija; Lehtimäki, Terho; Ledbetter, David
- Source:
Science. 4/20/2007, Vol. 316 Issue 5823, p445-449. 5p. - Source:
- Additional Information
- Subject Terms:
- 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 (100%) 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. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Science is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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