MECP2重复综合征
MECP2 Duplication Syndrome.
作者信息
Van Esch H
机构信息
Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
出版信息
Mol Syndromol. 2012 Apr;2(3-5):128-136. doi: 10.1159/000329580. Epub 2011 Jul 5.
Abstract
Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome.
摘要
自从首次报道明确证实MECP2基因重复与一种严重的伴有综合征的智力残疾之间存在因果关系以来，已发现并报告了许多新患者，已发表家族中的病因也已明确。这导致了一种临床上可识别的疾病的确立。在此，我们回顾了129例已报道和未报道的患有MECP2重复综合征男性患者的临床资料。
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Eur J Hum Genet. 2011 May;19(5):507-12. doi: 10.1038/ejhg.2010.226. Epub 2011 Feb 16.
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Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.男性 Xq28 区重复导致严重新生儿脑病和先天性巨结肠病的新关联。
BMC Med Genet. 2010 Sep 22;11:137. doi: 10.1186/1471-2350-11-137.
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MECP2 duplication in a patient with congenital central hypoventilation.一名先天性中枢性低通气患者的MECP2基因重复
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.一个女孩患有智力障碍，无明显畸形特征，存在 MECP2 从头重复。
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