De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
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DOI：
10.1034/j.1399-0004.2002.610507.x
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发表时间：
2002-05-01
影响因子：
3.5
通讯作者：
Hamel, BCJ
中科院分区：
文献类型：
--
作者：
Kleefstra, T;Yntema, HG;Hamel, BCJ
Rett综合征（RTT）是一种由MECP2基因突变引起的x连锁神经发育障碍，在男性胚胎中具有明显的致命性。然而，最近的研究表明，MECP2基因突变可导致男性先天性脑病、天使样表型甚至非特异性智力低下。我们报告了一个10岁的男孩，患有中度智力迟钝、低肌紧致、肥胖和女性乳房发育，MECP2基因重新缺失2个bp，导致移码和过早停止密码子。由于一些临床特征提示Prader-Willi综合征，对于非典型Prader-Willi表型但没有15q染色体特征性异常的患者，可能值得筛查MECP2突变。该报告有助于了解MECP2突变男性患者的表型。此外，这是首例报道的MECP2突变的男性病例。
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene, with apparent lethality in male embryos. However, recent studies indicate that mutations in the MECP2 gene can cause congenital encephalopathy, an Angelman-like phenotype and even nonspecific mental retardation in males.We report on a 10-year-old boy with moderate mental retardation, hypotonia, obesity and gynaecomastia and a de novo 2-bp deletion in the MECP2 gene that resulted in a frameshift and premature stop codon. As some of the clinical features were suggestive of the Prader-Willi syndrome, it might be worthwhile screening for MECP2 mutations in patients with an atypical Prader-Willi phenotype but without the characteristic abnormalities on chromosome 15q.This report contributes to the phenotypic knowledge of male patients with MECP2 mutations. Moreover, this is the first reported male case of a de novo MECP2 mutation.