Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges.

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

SUBMITTER: Vidal S 

PROVIDER: S-EPMC6719047 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature