Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

@article{Kalscheuer2006MutationsIA,
  title={Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation},
  author={Vera M. Kalscheuer and David Fitzpatrick and Niels Tommerup and Merete Bugge and Erik Niebuhr and Luitgard M. Neumann and Andreas Tzschach and Sarah A. Shoichet and Corinna Menzel and Fikret Erdogan and Ger Arkesteijn and Hans-Hilger Ropers and Reinhard Ullmann},
  journal={Human Genetics},
  year={2006},
  volume={121},
  pages={501-509}
}
We report on three unrelated mentally disabled patients, each carrying a de novo balanced translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11.2. One of our patients shows relatively mild mental retardation; the other two display more profound disorders. One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severe mental retardation. The function of AUTS2 is presently unknown, but it has been shown to be disrupted… CONTINUE READING

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