作者
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato, Andreas Dufke, Kirsten Cremer, Maja Hempel, Denise Horn, Juliane Hoyer, Pascal Joset, Albrecht Röpke, Ute Moog, Angelika Riess, Christian T Thiel, Andreas Tzschach, Antje Wiesener, Eva Wohlleber, Christiane Zweier, Arif B Ekici, Alexander M Zink, Andreas Rump, Christa Meisinger, Harald Grallert, Heinrich Sticht, Annette Schenck, Hartmut Engels, Gudrun Rappold, Evelin Schröck, Peter Wieacker, Olaf Riess, Thomas Meitinger, André Reis, Tim M Strom
发表日期
2012/11/10
期刊
The Lancet
卷号
380
期号
9854
页码范围
1674-1682
出版商
Elsevier
简介
Background
The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about the position of such genes, and suitable screening methods. Our aim was to identify de-novo variants in individuals with sporadic non-syndromic intellectual disability.
Methods
In this study, we enrolled children with intellectual disability and their parents from ten centres in Germany and Switzerland. We compared exome sequences between patients and their parents to identify de-novo variants. 20 children and their parents from the KORA Augsburg Diabetes Family Study were investigated as controls.
Findings
We enrolled 51 participants from the German Mental Retardation Network. 45 (88%) participants in the case group and 14 (70%) in the control group had de-novo variants. We identified 87 de-novo variants in the case group, with an exomic mutation rate of 1·71 …
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A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012