How to cite this article: Smeets EEJ, Chenault M, Curfs LMG, Schrander-Stumpel CTRM, Frijns J-P. 2009. Rett syndrome and long-term disorder profile. Am J Med Genet Part A 149A:199–205.
Rett syndrome and long-term disorder profile†
Article first published online: 9 JAN 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 2, pages 199–205, February 2009
How to Cite
Smeets, E. E.J., Chenault, M., Curfs, L. M.G., Schrander-Stumpel, C. T.R.M. and Frijns, J.-P. (2009), Rett syndrome and long-term disorder profile. Am. J. Med. Genet., 149A: 199–205. doi: 10.1002/ajmg.a.32491
- Issue published online: 22 JAN 2009
- Article first published online: 9 JAN 2009
- Manuscript Accepted: 19 JUN 2008
- Manuscript Received: 24 OCT 2007
- Rett syndrome;
- disorder profile
In a cohort of 103 females clinically diagnosed with Rett syndrome (RTT), 91 had a detectable MECP2 mutation. Emphasis on details of natural history facilitated grouping of females with the same MECP2 mutation and the development of so-called disorder profiles. Some examples of disorder profiles of different recurrent MECP2 mutations are discussed. RTT females with the frequently recurrent R133C and R306C missense mutations and those with intragenic deletions in the C-terminus of MECP2 deserve more attention in larger studies as their development is different and milder in the long term. RTT females with the T158M missense mutation are often atypical with mainly behavioral characteristics in infancy and childhood but become classic RTT in adolescence after a slower, protracted course. © 2009 Wiley-Liss, Inc.