The Autism Genome Project Consortium conducted a large-scale genetic study to identify risk loci for autism spectrum disorders (ASDs). Using Affymetrix 10K SNP arrays and 1,181 families with at least two affected individuals, they performed the largest linkage scan to date and analyzed copy number variations (CNVs). The study implicated chromosome 11p12–p13 and neurexins as potential risk loci. Neurexins interact with neuroligins, which are involved in glutamatergic synaptogenesis, suggesting that glutamate-related genes may contribute to ASDs. Autism is a neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive behaviors. It has a population prevalence of approximately 15–20 in 10,000, with males affected four times more frequently than females. Twin studies indicate a strong genetic component, with concordance rates of 60%–92% for monozygotic twins. The study found that submicroscopic chromosomal abnormalities and multiple interacting loci may contribute to ASD risk. The study identified 2,788 putative CNVs in 1,109 samples from 715 families. These included de novo CNVs, familial CNVs, and recurrent CNVs. The study also found that chromosome 15q11–q13 duplications are common in ASD cases. The results showed suggestive linkage at 11p12–p13 and 15q23–25.3. The study also found that CNVs in female-containing families were more informative for linkage analysis. The study used a combination of linkage analysis and CNV assessment to identify potential risk loci. The results suggest that neurexins and neuroligins may play a role in ASDs. The study also found that glutamate-related genes may be involved in ASD risk. The study highlights the importance of considering both genetic and environmental factors in understanding ASDs. The study's findings contribute to the understanding of the genetic basis of ASDs and may help in the development of new diagnostic and therapeutic strategies.The Autism Genome Project Consortium conducted a large-scale genetic study to identify risk loci for autism spectrum disorders (ASDs). Using Affymetrix 10K SNP arrays and 1,181 families with at least two affected individuals, they performed the largest linkage scan to date and analyzed copy number variations (CNVs). The study implicated chromosome 11p12–p13 and neurexins as potential risk loci. Neurexins interact with neuroligins, which are involved in glutamatergic synaptogenesis, suggesting that glutamate-related genes may contribute to ASDs. Autism is a neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive behaviors. It has a population prevalence of approximately 15–20 in 10,000, with males affected four times more frequently than females. Twin studies indicate a strong genetic component, with concordance rates of 60%–92% for monozygotic twins. The study found that submicroscopic chromosomal abnormalities and multiple interacting loci may contribute to ASD risk. The study identified 2,788 putative CNVs in 1,109 samples from 715 families. These included de novo CNVs, familial CNVs, and recurrent CNVs. The study also found that chromosome 15q11–q13 duplications are common in ASD cases. The results showed suggestive linkage at 11p12–p13 and 15q23–25.3. The study also found that CNVs in female-containing families were more informative for linkage analysis. The study used a combination of linkage analysis and CNV assessment to identify potential risk loci. The results suggest that neurexins and neuroligins may play a role in ASDs. The study also found that glutamate-related genes may be involved in ASD risk. The study highlights the importance of considering both genetic and environmental factors in understanding ASDs. The study's findings contribute to the understanding of the genetic basis of ASDs and may help in the development of new diagnostic and therapeutic strategies.