Pedigree chart representation of all families within the MSSNG quads cohort. The cohort consisted of 114 families made up of an autism-affected proband and unaffected mother, father, and sibling. Overall, through logistic regression, 37 distinct genetic regions were determined to show significantly greater rates and degrees of CGG repeat variation in the probands. These 37 regions included 19 genes, three ncRNAs, and 15 intergenic elements. Thirteen of the 19 genes have been previously linked to autism, neurological, or neurodevelopmental disorders. Four genes have been previously linked to cancers. Two genes had not been linked to any disorder; however, both are paralogs of genes implicated in neurological conditions. Furthermore, several genetic loci remained significant even after application of the most stringent multiple testing correction; see Supplemental Table S3.
