Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

  title={Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains},
  author={Madeleine R. Geisheker and Gabriel Heymann and Tianyun Wang and Bradley P. Coe and Tychele N Turner and Holly A F Stessman and Kendra Hoekzema and Malin Kvarnung and Marie A. Shaw and Kathryn L. Friend and Jan E Liebelt and Christopher P. Barnett and Elizabeth M. Thompson and Eric Haan and Hui Guo and B M Anderlid and Ann Nordgren and Anna Lindstrand and Geert Vandeweyer and Antonino Alberti and Emanuela Avola and Mirella Vinci and Stefania Giusto and Tiziano Pramparo and Karen L Pierce and Srinivasa Nalabolu and Jacob J. Michaelson and Zdenek Sedlacek and Gijs Willem Eduard Santen and Hilde Peeters and Hakon Hakonarson and Eric Courchesne and Corrado Romano and R. Frank Kooy and Raphael A. Bernier and Magnus Nordenskj{\"o}ld and Jozef G{\'e}cz and Kun Xia and Larry S Zweifel and Evan E. Eichler},
  booktitle={Nature Neuroscience},
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 sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with… CONTINUE READING
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