Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.
Curtin School of Allied Health, Curtin University, Perth, WA, Australia.
Orphanet J Rare Dis. 2022 Mar 21;17(1):131. doi: 10.1186/s13023-022-02278-w.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. The key features of MDS include intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, behavioural features of autism and dysmorphic features-although these comorbidities are not yet understood with sufficient granularity. This review has covered the past two decades of MDS case studies and series since the discovery of the disorder in 1999. After comprehensively reviewing the reported characteristics, this review has identified areas of limited knowledge that we recommend may be addressed by better phenotyping this disorder through an international data collection. This endeavour would also serve to delineate the clinical overlap between MDS and RTT.
MECP2 重复综合征（MDS）是一种罕见的 X 连锁神经发育障碍，由甲基化CpG 结合蛋白 2（MECP2）基因重复引起 - 该基因中的功能丧失突变导致雷特综合征（RTT）。MDS 在男性中的估计活产患病率为 1/150,000。MDS 的主要特征包括智力残疾、发育迟缓、张力减退、癫痫发作、复发性呼吸道感染、胃肠道问题、自闭症的行为特征和发育不良特征 - 尽管这些合并症尚未得到足够的了解。本综述涵盖了自 1999 年发现该疾病以来过去二十年的 MDS 病例研究和系列。在全面回顾报告的特征后，本综述确定了知识有限的领域，我们建议可以通过国际数据收集更好地表征该疾病来解决这些领域。这项工作还将有助于描绘 MDS 和 RTT 之间的临床重叠。
