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Chunk #57 — Discussion

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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2000) have already identified CAPGLY domain containing linker protein 2 (CLIP2), LIM domain kinase 1 (LIMK1), General transcription factor II, i (GTF2i), and Syntaxin 1A (STX1A) as the leading candidates among the 22 genes within the region for involvement in the cognitive and social phenotypes. The characterization of this single region in which opposite changes in copy number contribute to contrasting social phenotypes promises to set the stage for a range of interesting studies of the role of gene dosage within this interval and the genesis of social mechanisms.