Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

doi:10.1038/s41588-022-01148-2

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Article

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature genetics - 1 Sept 2022

Zhou Xueya, Feliciano Pamela, Shu Chang, Wang Tianyun, Astrovskaya Irina, Hall Jacob B, Obiajulu Joseph U, Wright Jessica R, Murali Shwetha C, Xu Simon Xuming, Brueggeman Leo, Thomas Taylor R, Marchenko Olena, Fleisch Christopher, Barns Sarah D, Snyder LeeAnne Green, Han Bing, Chang Timothy S, Turner Tychele N, Harvey William T, Nishida Andrew, O'Roak Brian J, Geschwind Daniel H, Michaelson Jacob J, Volfovsky Natalia, Eichler Evan E, Shen Yufeng, Chung Wendy K

Abstract excerpt

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new cases recruited online by SPARK. We identified 60 genes with exome-wide significance (P < 2.5 × 10-6), including five new risk genes (NAV3, ITSN1, MARK2, SCAF1 and HNRNPUL2). The association of NAV3 with autism risk is primarily...

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PMID: 35982159
DOI: 10.1038/s41588-022-01148-2
PMCID: PMC9470534

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