Rett syndrome in females with CTS hot spot deletions: a disorder profile.

  title={Rett syndrome in females with CTS hot spot deletions: a disorder profile.},
  author={Eric E J G L Smeets and Paulien Anna Terhal and Paul Casaer and Angelika Peters and Alina Teresa Midro and Els Schollen and Kees Van Roozendaal and Ute Moog and Gert Matthijs and Jos Herbergs and Hubert Smeets and Leopold M G Curfs and Connie Schrander-Stumpel and Jean Pierre Fryns},
  journal={American journal of medical genetics. Part A},
  volume={132A 2},
From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C-terminus, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures. Their adaptive behavior is surprisingly… CONTINUE READING

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