Rett syndrome (RTT) is a unique neurodevelopmental disorder that primarily affects females resulting in severe cognitive and physical disabilities. Despite the commendable collective efforts of the research community to better understand the genetics and underlying biology of RTT, there is still no cure. However, in the past 50 years, since the first report of RTT, steady progress has been made in the accumulation of clinical and molecular information resulting in the identification of a number of genes associated with RTT and associated phenotypes, improved diagnostic criteria, natural history studies, curation of a number of databases capturing genotypic and phenotypic data, a number of promising clinical trials and exciting novel therapeutic options which are currently being tested in laboratory and clinical settings. This Review focuses on the current knowledge of the clinical aspects of RTT, with particular attention being paid to clinical trials and the comorbidities of the disorder as well as the genetic etiology and the recognition of new diseases genes.

中文翻译：

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Rett综合征：以合并症为重点的基因更新和临床评价

Rett综合征（RTT）是一种独特的神经发育障碍，主要影响女性，导致严重的认知和身体残疾。尽管研究界做出了值得称赞的集体努力，以更好地了解RTT的遗传学和基础生物学，但仍然无法治愈。然而，在过去的50年中，自从首次发表RTT报告以来，在临床和分子信息积累方面取得了稳步进展，从而鉴定出了许多与RTT相关的基因和相关的表型，改进的诊断标准，自然病史研究，整理多个收集基因型和表型数据的数据库，许多有前途的临床试验以及令人兴奋的新颖治疗选择，目前正在实验室和临床环境中对其进行测试。