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4. Frontmatter

Author

Carpenter, Laura

Published
2005

5. Index

Author

Carpenter, Laura

Published
2005

8. Cover

Author

Carpenter, Laura

Published
2005

9. Notes

Author

Carpenter, Laura

Published
2005

22. Cover

Author

Carpenter, Laura and DeLamater, John

Published
2012

25. Acknowledgments

Author

Carpenter, Laura and DeLamater, John

Published
2012

47. Bibliography

Author

Carpenter, Laura and DeLamater, John

Published
2012

49. Index

Author

Carpenter, Laura and DeLamater, John

Published
2012

50. Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Author

Wang, Tianyun, Kim, Chang N, Bakken, Trygve E, Gillentine, Madelyn A, Henning, Barbara, Mao, Yafei, Gilissen, Christian, Consortium, The SPARK, Nowakowski, Tomasz J, Eichler, Evan E, Acampado, John, Ace, Andrea J, Amatya, Alpha, Astrovskaya, Irina, Bashar, Asif, Brooks, Elizabeth, Butler, Martin E, Cartner, Lindsey A, Chin, Wubin, Chung, Wendy K, Daniels, Amy M, Feliciano, Pamela, Fleisch, Chris, Ganesan, Jensen, William, Lash, Alex E, Marini, Richard, Myers, Vincent J, O'Connor, Eirene, Rigby, Chris, Robertson, Beverly E, Shah, Neelay, Shah, Swapnil, Singer, Emily, Snyder, LeeAnne G, Stephens, Alexandra N, Tjernagel, Jennifer, Vernoia, Brianna M, Volfovsky, Natalia, White, Loran Casey, Hsieh, Alexander, Shen, Yufeng, Zhou, Xueya, Turner, Tychele N, Bahl, Ethan, Thomas, Taylor R, Brueggeman, Leo, Koomar, Tanner, Michaelson, Jacob J, O'Roak, Brian J, Barnard, Rebecca A, Gibbs, Richard A, Muzny, Donna, Sabo, Aniko, Ahmed, Kelli L Baalman, Siegel, Matthew, Abbeduto, Leonard, Amaral, David G, Hilscher, Brittani A, Li, Deana, Smith, Kaitlin, Thompson, Samantha, Albright, Charles, Butter, Eric M, Eldred, Sara, Hanna, Nathan, Jones, Mark, Coury, Daniel Lee, Scherr, Jessica, Pifher, Taylor, Roby, Erin, Dennis, Brandy, Higgins, Lorrin, Brown, Melissa, Alessandri, Michael, Gutierrez, Anibal, Hale, Melissa N, Herbert, Lynette M, Schneider, Hoa Lam, David, Giancarla, Annett, Robert D, Sarver, Dustin E, Arriaga, Ivette, Camba, Alexies, Gulsrud, Amanda C, Haley, Monica, McCracken, James T, Sandhu, Sophia, Tafolla, Maira, Yang, Wha S, Carpenter, Laura A, Bradley, Catherine C, Gwynette, Frampton, Manning, Patricia, Shaffer, Rebecca, Thomas, Carrie, Bernier, Raphael A, Fox, Emily A, and Gerdts, Jennifer A

Subjects
Biological Sciences, Genetics, Mental Health, Intellectual and Developmental Disabilities (IDD), Biotechnology, Pediatric, Autism, Brain Disorders, Mental health, Child, Male, Female, Humans, Autistic Disorder, Autism Spectrum Disorder, Developmental Disabilities, Genetic Predisposition to Disease, Exome, Histone Deacetylases, Repressor Proteins, Carrier Proteins, de novo variants, neurodevelopmental disorder, protein-protein interaction, single-nuclei transcriptome, SPARK Consortium, protein–protein interaction
Abstract

Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P < 3.64e-7) in all models. The genes group into five functional networks associating with different brain developmental lineages based on single-cell nuclei transcriptomic data. We find no evidence for ASD-specific genes in contrast to 18 genes significantly enriched for DD. There are 53 genes that show mutational bias, including enrichments for missense (n = 41) or truncating (n = 12) DNVs. We also find 10 genes with evidence of male- or female-bias enrichment, including 4 X chromosome genes with significant female burden (DDX3X, MECP2, WDR45, and HDAC8). This large-scale integrative analysis identifies candidates and functional subsets of NDD genes.

Published
2022

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