Next Article in Journal
Circular RNAs: Biogenesis, Mechanism, and Function in Human Cancers
Previous Article in Journal
MiR-574-5p: A Circulating Marker of Thoracic Aortic Aneurysm
Previous Article in Special Issue
Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome
Article Menu
Issue 16 (August-2) cover image

Export Article

Open AccessReview

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

Sant Joan de Déu Research Foundation, 08950 Barcelona, Spain
Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, 08950 Barcelona, Spain
Neurology Service, Hospital Sant Joan de Déu, 08950 Barcelona, Spain
CIBER-ER (Biomedical Network Research Center for Rare Diseases), Institute of Health Carlos III (ISCIII), 28029 Madrid, Spain
Molecular and Genetics Medicine Section, Hospital Sant Joan de Déu, 08950 Barcelona, Spain
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2019, 20(16), 3925;
Received: 3 July 2019 / Revised: 8 August 2019 / Accepted: 10 August 2019 / Published: 12 August 2019
PDF [1018 KB, uploaded 19 August 2019]


Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that primarily affects females, resulting in severe cognitive and physical disabilities, and is one of the most prevalent causes of intellectual disability in females. More than fifty years after the first publication on Rett syndrome, and almost two decades since the first report linking RTT to the MECP2 gene, the research community’s effort is focused on obtaining a better understanding of the genetics and the complex biology of RTT and Rett-like phenotypes without MECP2 mutations. Herein, we review the current molecular genetic studies, which investigate the genetic causes of RTT or Rett-like phenotypes which overlap with other genetic disorders and document the swift evolution of the techniques and methodologies employed. This review also underlines the clinical and genetic heterogeneity of the Rett syndrome spectrum and provides an overview of the RTT-related genes described to date, many of which are involved in epigenetic gene regulation, neurotransmitter action or RNA transcription/translation. Finally, it discusses the importance of including both phenotypic and genetic diagnosis to provide proper genetic counselling from a patient’s perspective and the appropriate treatment.
Keywords: Rett syndrome; Rett-like; NGS; genetics Rett syndrome; Rett-like; NGS; genetics
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Share & Cite This Article

MDPI and ACS Style

Vidal, S.; Xiol, C.; Pascual-Alonso, A.; O’Callaghan, M.; Pineda, M.; Armstrong, J. Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges. Int. J. Mol. Sci. 2019, 20, 3925.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top