Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.

@article{Tzschach2006NovelJM,
  title={Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.},
  author={Andreas Tzschach and Steffen Lenzner and Bettina Moser and Richard Reinhardt and Jamel Chelly and J E Fryns and Tjitske Kleefstra and Martine Raynaud and Gillian Turner and H. -H. Ropers and Andreas Walter Kuss and Lars Riff Jensen},
  journal={Human mutation},
  year={2006},
  volume={27 4},
  pages={389}
}
X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. Here, we report five novel JARID1C mutations in five XLMR… CONTINUE READING