Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead , Sydney, NSW 2145, Australia.
Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead , Sydney, NSW 2145, Australia.
ACS Chem Neurosci. 2018 Feb 21;9(2):167-176. doi: 10.1021/acschemneuro.7b00346. Epub 2017 Dec 15.
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.
雷特综合征（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。尽管研究界为了更好地了解 RTT 的遗传学和基础生物学做出了值得称赞的共同努力，但仍没有治愈方法。然而，自 RTT 的第一个报告以来的过去 50 年中，在积累临床和分子信息方面取得了稳步进展，确定了许多与 RTT 相关的基因及其相关表型，改进了诊断标准，进行了自然病史研究，整理了许多数据库以捕获基因型和表型数据，开展了一些有前途的临床试验，并探索了目前正在实验室和临床环境中测试的新的治疗选择。这篇综述重点介绍了 RTT 的临床方面的现有知识，特别关注临床试验以及该疾病的合并症、遗传病因以及对新疾病基因的识别。
