IQ and Sex Differences in Autism Genetics

Among children with ASD, mutations in girls and in boys with low IQs are distinct from those in boys with higher IQs; embryonically expressed mutations occur primarily in girls.

Large-scale copy number variations have been shown to contribute to the risk for autism spectrum disorder (ASD; NEJM JW Psychiatry Oct 26 2009), but the roles of coding variants and ASD risk by sex and IQ remain unclear. To study these factors, researchers conducted whole-exome sequencing (all protein-encoding parts of DNA) in 2508 “quad families” consisting of one affected child, one unaffected sibling, and both parents.

De novo mutations likely to disrupt genes (LGD) included frameshifts (deletions or insertions of a few bases), nonsense mutations (transcription stops prematurely), or splice-site variations (positions where DNA transcribes to RNA). Of 391 LGD sites in 353 genes, 27 occurred in more than one affected individual. LGD mutatio…

Reviewing Author

Barbara Geller, MD

Disclosures

Nothing to disclose

Barbara Geller, MD

Disclosures

Nothing to disclose

IQ and Sex Differences in Autism Genetics

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Reviewing Author