Fu Fang, Liu Huan-ling, Li Ru, Han Jin, Yang Xin, Min Pan, Zhen Li, Zhang Yong-ling, Xie Gui-e, Lei Ting-ying, Li Yan, Li Jian, Li Dong-zhi, Liao Can
Department of Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong 510623, China.
Ultrasonic Department of Panyu Central Hospital, Guangzhou, Guangdong 511400, China.
Gene. 2014 Aug 10;546(2):222-5. doi: 10.1016/j.gene.2014.06.012. Epub 2014 Jun 7.
MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.
MECP2基因重复在100%受影响的男性儿童中会导致一种广为人知的综合征；该综合征的特征为严重的神经发育障碍和反复感染。然而，尚未有关于受影响胎儿超声检查结果的报道，并且由于缺乏产前临床表现，该疾病无法进行产前分子诊断。在本研究中，我们在一名患有严重X连锁智力障碍的家族患者以及一名有脑结构异常的产前胎儿中，鉴定出Xq28区域一个包含MECP2和L1CAM基因的小重复。通过使用高分辨率染色体微阵列分析（CMA）对108例有先天性结构异常的胎儿进行筛查，我们又鉴定出另外3例存在MECP2基因重复的胎儿。我们的研究表明，脑室扩大、脑积水、胼胝体发育不全、脉络丛囊肿、胎儿生长受限和肾积水可能是产前MECP2基因重复胎儿常见的超声检查结果，并且本研究首次提供了一组MECP2基因重复的产前病例，这些患者所描述的超声表型将有助于识别可能存在MECP2基因重复的胎儿，并促使进行适当的分子检测。
