Article
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
American journal of human genetics - 6 Aug 2015
Snijders Blok Lot, Madsen Erik, Juusola Jane, Gilissen Christian, Baralle Diana, Reijnders Margot R F, Venselaar Hanka, Helsmoortel Céline, Cho Megan T, Hoischen Alexander, Vissers Lisenka E L M, Koemans Tom S, Wissink-Lindhout Willemijn, Eichler Evan E, Romano Corrado, Van Esch Hilde, Stumpel Connie, Vreeburg Maaike, Smeets Eric, Oberndorff Karin, van Bon Bregje W M, Shaw Marie, Gecz Jozef, Haan Eric, Bienek Melanie, Jensen Corinna, Loeys Bart L, Van Dijck Anke, Innes A Micheil, Racher Hilary, Vermeer Sascha, Di Donato Nataliya, Rump Andreas, Tatton-Brown Katrina, Parker Michael J, Henderson Alex, Lynch Sally A, Fryer Alan, Ross Alison, Vasudevan Pradeep, Kini Usha, Newbury-Ecob Ruth, Chandler Kate, Male Alison, Dijkstra Sybe, Schieving Jolanda, Giltay Jacques, van Gassen Koen L I, Schuurs-Hoeijmakers Janneke, Tan Perciliz L, Pediaditakis Igor, Haas Stefan A, Retterer Kyle, Reed Patrick, Monaghan Kristin G, Haverfield Eden, Natowicz Marvin, Myers Angela, Kruer Michael C, Stein Quinn, Strauss Kevin A, Brigatti Karlla W, Keating Katherine, Burton Barbara K, Kim Katherine H, Charrow Joel, Norman Jennifer, Foster-Barber Audrey, Kline Antonie D, Kimball Amy, Zackai Elaine, Harr Margaret, Fox Joyce, McLaughlin Julie, Lindstrom Kristin, Haude Katrina M, van Roozendaal Kees, Brunner Han, Chung Wendy K, Kooy R Frank, Pfundt Rolph, Kalscheuer Vera, Mehta Sarju G, Katsanis Nicholas, Kleefstra Tjitske
Abstract excerpt
Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38...
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