paperKB
coga / coga-kb
Help
Sign in

Chunk #52 — Discussion

Source
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Embedded
yes

Text

These data suggest both that this study has identified bona fide high-risk variants for autism spectrum disorders and that many of these loci also confer liability to a range of complex neurobehavioral phenotypes. They also suggest a more complex relationship of IQ and large de novo events than is often supposed: for example the relatively high rates of 16p11.2 and 7q11.23 CNVs and low rates of 15q11.2-13.1 duplications seen in this study compared to others may reflect particular subpopulations of rare de novo risk CNVs that are more readily ascertained in cohorts with higher mean IQ.