MECP2 abnormality phenotypes:: Clinicopathologic area with broad variability
MECP2 abnormality phenotypes:: Clinicopathologic area with broad variability
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DOI：
10.1177/08830738050200082001
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发表时间：
2005-09-01
影响因子：
1.9
通讯作者：
Hagberg, B
中科院分区：
文献类型：
--
作者：
Erlandson, A;Hagberg, B
Rett综合征是一种世界范围内发生的神经发育障碍，主要影响女孩。MECP2基因被认为是潜在的基因。有趣的是，据报道，除了Rett综合征之外，其他临床表现也是MECP2偏差的结果。这促使我们勾勒出一个可行的假设，即这些不同的表型是如何联系起来的。我们的目的是总结目前MECP2偏差的临床情况，以获得一个全面的概述。因此，我们试图创建一个梯度，从左侧开始，从受影响最严重的MECP2异常亚组开始，代表在宫内期或新生儿患病的男孩，以及受影响最轻的亚组，女性无症状携带者。在中心，以占主导地位的数字，我们放置了经典的Rett综合征表现，以及晚发性Rett综合征变体和保留的语音变体。总之，我们认为有必要强调，Rett综合征是一种严格的临床诊断，并不等同于更广泛的MECP2偏差概念。
Rett syndrome is a neurodevelopmental disorder that occurs worldwide and predominantly affects girls. The MECP2 gene has been put forward as the underlying gene. Interestingly, other clinical presentations in addition to Rett syndrome have been reported to be the results of deviations in MECP2. This prompted us to outline a working hypothesis of how these diverse phenotypes are connected. Our aim was to summarize the clinical picture of deviations in MECP2 at this moment to obtain a comprehensive overview. Thus, we have attempted to create a gradient, starting at the left with the most severely affected MECP2-deviant subgroups, represented by boys who are diseased in the intrauterine phase or as neonates, and at the light, the most mildly affected subgroup, female asymptomatic carriers. In the center, with dominant numbers, we have placed classic Rett syndrome presentations, together with the late-onset Rett syndrome variant and preserved speech variant. In conclusion, we feel that it is important to emphasize that Rett syndrome is a strictly clinical diagnosis that is not identical to the far broader concept of MECP2 deviations.