• G Desachy, L A Croen, A R Torres, M Kharrazi, G N Delorenze, G C Windham, C K Yoshida, and L A Weiss.
• Department of Psychiatry and Institute for Human Genetics, UCSF, San Francisco, CA, USA.
• Mol. Psychiatry. 2015 Feb 1; 20 (2): 170-5.

AbstractAutosomal genetic variation is presumed equivalent in males and females and makes a major contribution to disease risk. We set out to identify whether maternal copy number variants (CNVs) contribute to autism spectrum disorders (ASDs). Surprisingly, we observed a higher autosomal burden of large, rare CNVs in females in the population, reflected in, but not unique to, ASD families. Meta-analysis across control data sets confirms female excess in CNV number (P=2.1 × 10(-5)) and gene content (P=4.1 × 10(-3)). We additionally observed CNV enrichment in ASD mothers compared with control mothers (P=0.03). We speculate that tolerance for CNV burden contributes to decreased female fetal loss in the population and that ASD-specific maternal CNV burden may contribute to high sibling recurrence. These data emphasize the need for study of familial CNV risk factors in ASDs and the requirement of sex-matched comparisons.

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