Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.

[ 60 ] for intellectual disability, developmental delay, and/or ASD, DOCK8 is nominally significant for deletions ( P = 0.000281) but not duplications.

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DOCK8 and the neighboring gene KANK1 exhibited significant or marginally significant case enrichment in all five cohorts (Tables 2 and 3 , Fig. 2 ), especially in the Janssen SCZ and BD cohort as well as the CHOP ASD cohort, in which more than 5 cases but no controls carry CNVs in this region (Table 3 ).

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The highly significant associations of DOCK8 / KANK1 duplications were further validated by an independent experimental approach.

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