This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Huppke, P. Articles by Gärtner, J. Search for Related Content PubMed PubMed Citation Articles by Huppke, P. Articles by Gärtner, J. Pubmed/NCBI databases Genetics Home Reference Medline Plus Health Information Rett Syndrome Social Bookmarking                         What's this?

Molecular Diagnosis of Rett Syndrome

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany phuppke@med. uni-goettingen.

Jutta Gärtner

Department of Pediatrics and Pediatric Neurology, Georg August University, Göttingen, Germany

In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher. In most cases, missense and nonsense mutations affecting functionally important domains can be found. Additionally, a hot spot for small deletions has been defined, and several gross rearrangements have also been described. Among female individuals with Rett syndrome, the spectrum of clinical phenotypes is broad, but most fulfill the diagnostic criteria. In contrast, male individuals with mutations in the MECP2 gene are rare, and only a minority have clinical symptoms resembling Rett syndrome. (J Child Neurol 2005;20:732—736).

Journal of Child Neurology, Vol. 20, No. 9, 732-736 (2005)
DOI: 10.1177/08830738050200090601


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?

This article has been cited by other articles:

				V. H. Adams, S. J. McBryant, P. A. Wade, C. L. Woodcock, and J. C. Hansen Intrinsic Disorder and Autonomous Domain Function in the Multifunctional Nuclear Protein, MeCP2 J. Biol. Chem., May 18, 2007; 282(20): 15057 - 15064. [Abstract] [Full Text] [PDF]

				P Huppke, E M Maier, A Warnke, C Brendel, F Laccone, and J Gartner Very mild cases of Rett syndrome with skewed X inactivation J. Med. Genet., October 1, 2006; 43(10): 814 - 816. [Abstract] [Full Text] [PDF]