An Overview of Rett Syndrome

Kristen L. Szabla, Lisa M Monteggia

Research output: Chapter in Book/Report/Conference proceedingChapter


Rett syndrome (RTT) is a neurological disorder that is estimated to affect one in every 10,000 live female births -worldwide. In this chapter we discuss the hallmarks of RTT, as well as inheritance of the disease, its diagnostic -testing, evolution, variants, and end of life comorbidities. We describe the consequences of loss-of-function mutations in the gene encoding the transcription factor methyl-CpG binding protein 2 (MeCP2) in RTT, as well as discuss normal and abnormal MeCP2 gene products, genotype-phenotype correlations, and the search for MeCP2 gene -targets. Finally, we provide an overview of current literature regarding pathology in human RTT subjects, MeCP2-based mouse models, alterations in brain-derived neurotrophic factor (BDNF) and insulin-like growth factor 1 -(IGF-1) levels in RTT individuals and in MeCP2-based mouse models, as well as recent progress in the search for rational therapeutic interventions.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Number of pages12
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
StatePublished - Nov 13 2014


  • BDNF
  • MeCP2
  • Neurodevelopmental disorder
  • Rett syndrome

ASJC Scopus subject areas

  • Medicine(all)


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