Article
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Nature neuroscience - 1 Aug 2017
Geisheker Madeleine R, Heymann Gabriel, Wang Tianyun, Coe Bradley P, Turner Tychele N, Stessman Holly A F, Hoekzema Kendra, Kvarnung Malin, Shaw Marie, Friend Kathryn, Liebelt Jan, Barnett Christopher, Thompson Elizabeth M, Haan Eric, Guo Hui, Anderlid Britt-Marie, Nordgren Ann, Lindstrand Anna, Vandeweyer Geert, Alberti Antonino, Avola Emanuela, Vinci Mirella, Giusto Stefania, Pramparo Tiziano, Pierce Karen, Nalabolu Srinivasa, Michaelson Jacob J, Sedlacek Zdenek, Santen Gijs W E, Peeters Hilde, Hakonarson Hakon, Courchesne Eric, Romano Corrado, Kooy R Frank, Bernier Raphael A, Nordenskjöld Magnus, Gecz Jozef, Xia Kun, Zweifel Larry S, Eichler Evan E
Abstract excerpt
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted...
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