Article
A de novo paradigm for mental retardation.
Nature genetics - 1 Dec 2010
Vissers Lisenka E L M, de Ligt Joep, Gilissen Christian, Janssen Irene, Steehouwer Marloes, de Vries Petra, van Lier Bart, Arts Peer, Wieskamp Nienke, del Rosario Marisol, van Bon Bregje W M, Hoischen Alexander, de Vries Bert B A, Brunner Han G, Veltman Joris A
Abstract excerpt
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common neurodevelopmental and psychiatric diseases, explaining a major paradox in evolutionary genetic theory. Here we used a family based exome sequencing approach to test this de novo mutation hypothesis in ten individuals with unexplained mental retardation. We identified...
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