Enrichment of rare functional variants in mGluR pathway genes in autism cases detected by high-throughput sequencing.

SNVs in mGluR pathway genes were identified in pools of AGRE or control samples and classified based on allele frequency and predicted functional impact. The values shown represent the numbers of distinct variants identified. A significant excess of rare, potentially deleterious variants in the AGRE group relative to the control group was observed for the HOMER1, SHANK3, TSC1, and TSC2 genes (highlighted in bold).