Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.

@article{Zhu2010AnalysisOT,
  title={Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.},
  author={Xingwang Zhu and Meirong Li and Hongze Pan and Xinhua Bao and Jingjing Zhang and Xi-ru Wu},
  journal={Journal of child neurology},
  year={2010},
  volume={25 7},
  pages={842-8}
}
Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the X-chromosome inactivation status in 24 sporadic patients with identified methyl-CpG-binding… CONTINUE READING