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Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

1
Sant Joan de Déu Research Foundation, 08950 Barcelona, Spain
2
Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, 08950 Barcelona, Spain
3
Neurology Service, Hospital Sant Joan de Déu, 08950 Barcelona, Spain
4
CIBER-ER (Biomedical Network Research Center for Rare Diseases), Institute of Health Carlos III (ISCIII), 28029 Madrid, Spain
5
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; https://doi.org/10.3390/ijms20163925
Received: 3 July 2019 / Revised: 8 August 2019 / Accepted: 10 August 2019 / Published: 12 August 2019
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Abstract

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).
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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.

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