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首页> 外文期刊>Genomics >Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways
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Genomic and transcriptomic analyses distinguish classic Rett and Rett-like syndrome and reveals shared altered pathways

机译：基因组和转录组学分析可区分经典的Rett和Rett-like综合征并揭示共享的改变途径

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Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by derangements in nervous system especially in cognition and behavior. The present study aims to understand the molecular underpinnings of two subtypes of RTT, classic RTT and Rett-like, and to elucidate common pathways giving rise to common RTT phenotype using genomic and transcriptomic approaches. Mutation screening on selected nuclear genes revealed only MECP2 mutations in a subset of classic RTT patients. MLPA assays and mtDNA screenings were all negative. Genome-wide copy number analysis indicated a novel duplication on X chromosome. Transcriptional profiling revealed blood gene signatures that clearly distinguish classic RTT and RTT-like patients, as well as shared altered pathways in interleukin-4 and NF-κB signaling pathways in both subtypes of the syndrome. To our knowledge, this is the first report on investigating common regulatory mechanisms/signaling pathways that may be relevant to the pathobiology of the “common RTT” phenotype.
机译：Rett综合征（RTT）是一种X连锁神经发育障碍，其特征是神经系统异常，尤其是认知和行为异常。本研究旨在了解RTT两种亚型的分子基础，即经典RTT和Rett-like，并使用基因组学和转录组学方法阐明引起常见RTT表型的常见途径。对选定的核基因进行的突变筛选显示，在部分经典RTT患者中仅MECP2突变。 MLPA测定和mtDNA筛查均为阴性。全基因组拷贝数分析表明在X染色体上有新的重复。转录谱分析揭示了血液基因特征，可以清楚地区分经典的RTT和RTT样患者，以及该综合征的两种亚型中白介素4和NF-κB信号通路的共享改变通路。据我们所知，这是有关调查可能与“常见RTT”表型的病理生物学相关的常见调节机制/信号通路的第一份报告。

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