20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

@article{Piton201420AA,
  title={20 ans apr{\`e}s: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition},
  author={Am{\'e}lie Piton and H{\'e}l{\`e}ne Poquet and Claire Redin and Alice Masurel and Julia Lauer and Jean Muller and Julien Thevenon and Yvan Herenger and Sophie Chancenotte and Marl{\`e}ne Bonnet and Jean-Michel Pinoit and Fr{\'e}d{\'e}ric Huet and Christel Thauvin-Robinet and Anne-Sophie Jaeger and St{\'e}phanie Le Gras and Bernard Jost and B{\'e}n{\'e}dicte G{\'e}rard and Katell H Peoc'h and J. -F. Launay and Laurence Faivre and J L Mandel},
  journal={European Journal of Human Genetics},
  year={2014},
  volume={22},
  pages={776-783}
}
Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding monoamine oxidase A (MAOA), for which only one nonsense mutation has been identified in… CONTINUE READING
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