ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.

@article{Badens2006ATRXSI,
  title={ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.},
  author={C Badens and Nathalie Martini and S{\'e}bastien Courrier and Vincent Desportes and Renaud Laurian Touraine and Nicolas L{\'e}vy and Patrick Edery},
  journal={American journal of medical genetics. Part A},
  year={2006},
  volume={140 20},
  pages={2212-5}
}
Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX. We show that her pattern of X-inactivation is totally skewed and that her active X chromosome which harbors the ATRX mutation, was maternally inherited. To our… CONTINUE READING

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