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Autism spectrum disorder (ASD) is a heterogeneous disorder with substantial heritability, most of which is unexplained. ASD has a population prevalence of one percent and affects four times as many males as females. Patients with fragile X E (FRAXE) intellectual disability, which is caused by a silencing of the X-linked gene  AFF2 , display a number of ASD-like phenotypes. Duplications and deletions at the  AFF2  locus have also been reported in cases with moderate intellectual disability and ASD. We hypothesized that other rare X-linked sequence variants at the  AFF2  locus might contribute to ASD. We sequenced the  AFF2  genomic region in 202 male ASD probands and found that 2.5% of males sequenced had missense mutations at highly conserved evolutionary sites. When compared with the frequency of missense mutations in 5545 X chromosomes from unaffected controls, we saw a statistically significant enrichment in patients with ASD (OR: 4.9;  P  &lt; 0.014). In addition, we identified rare  AFF2  3′ UTR variants at conserved sites which alter gene expression in a luciferase assay. These data suggest that rare variation in  AFF2  may be a previously unrecognized ASD susceptibility locus and may help explain some of the male excess of ASD.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder