A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections

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• 作者：Xiu Xu (1)
  Qiong Xu (1)
  Ying Zhang (1)
  Xiaodi Zhang (2) (3)
  Tianlin Cheng (2) (3)
  Bingbing Wu (1)
  Yanhua Ding (1)
  Ping Lu (1)
  Jingjing Zheng (2) (3)
  Min Zhang (2)
  Zilong Qiu (2)
  Xiang Yu (2)
  
• 关键词：MECP2 ; Autism ; ASD ; CNV ; Chinese patients
• 刊名：BMC Medical Genetics
• 出版年：2012
• 出版时间：December 2012
• 年：2012
• 卷：13
• 期：1
• 全文大小：533KB
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  53. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/13/75/prepub
  
• 作者单位：Xiu Xu (1)
  Qiong Xu (1)
  Ying Zhang (1)
  Xiaodi Zhang (2) (3)
  Tianlin Cheng (2) (3)
  Bingbing Wu (1)
  Yanhua Ding (1)
  Ping Lu (1)
  Jingjing Zheng (2) (3)
  Min Zhang (2)
  Zilong Qiu (2)
  Xiang Yu (2)
  
  1. Department of Child Healthcare, Children’s Hospital of Fudan University, Shanghai, China
  2. Institute of Neuroscience and State Key Laboratory of Neuroscience, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China
  3. Graduate School of the Chinese Academy of Sciences, Shanghai, China
  
• ISSN：1471-2350

文摘

Background Autistic spectrum disorders (ASDs) are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute significantly to these disorders. One such gene is the transcription factor MECP2, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism. Case presentation Here, we identified a Chinese family with two brothers both inheriting a 2.2?Mb MECP2-containing duplication (151,369,305 -153,589,577) from their mother. In addition, both brothers also had a 213.7?kb duplication on Chromosome 2, inherited from their father. The older brother also carried a 48.4?kb duplication on Chromosome 2 inherited from the mother, and a 8.2?kb deletion at 11q13.5 inherited from the father. Based on the published literature, MECP2 is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying MECP2 duplications, including intellectual disability, autism, lack of speech, slight hypotonia and unsteadiness of movement. They also had slight dysmorphic features including a depressed nose bridge, large ears and midface hypoplasia. Interestingly, they did not exhibit other clinical features commonly observed in American-European patients with MECP2 duplication, including recurrent respiratory infections and epilepsy. Conclusions To our knowledge, this is the first identification and characterization of Chinese Han patients with MECP2-containing duplications. Further cases are required to determine if the above described clinical differences are due to individual variations or related to the genetic background of the patients.