E. Smeets1,2, Pauline Terhal3, Paul Casaer4, A. C. B. Peters5, Alina T. Midro6, Els Schollen1, Kees van Roozendaal2, Ute Moog2, Gert Matthijs1, J. Herbergs2, H. Smeets2, Leopold Curfs2,7, C. T. R. M. Schrander‐Stumpel2,7, J. P. Fryns1,2
1Centre of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium
2Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands
3Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
4Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium
5Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands
6Department of Human Genetics, Medical University of Bialystok, Bialystok, Poland
7Research Institute Growth and Development, Maastricht University, Maastricht, The Netherlands
Tóm tắt
AbstractFrom 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 better preserved and in contrast with the typical decline in motor functioning. The delineaton of disorder profiles by long‐term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype. © 2004 Wiley‐Liss, Inc.
