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Chunk #11 — Materials and methods — Clinical and genetic characteristics of the autistic subjects

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The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes.
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For three of the 13 autistic subjects, the list of high-confidence copy number variations identified both by quantiSNAP and Partek HMM computational algorithm was posted on the ATP portal by Drs. Steve Scherer and Richard Wintle from The Center for Applied Genomics, Toronto. The copy number variations detected in the three autistic subjects do not differ from those commonly observed [75], except for the loss of 25,505 kb within Neuropeptide S Receptor 1 (NPSR1) gene at 7p15–p14 detected in a 22-year-old autistic male (B-6337). NPSR1 has not been linked to autism in the genomic reports [103, 112]; however, an association of NPSR1 copy number variation with allergies has been reported [11] that might be linked to the patient’s history of allergies.