A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections
文献类型：期刊论文
| 作者 | Xu, X ; Xu, Q ; Zhang, Y ; Zhang, XD ; Cheng, TL ; Wu, BB ; Ding, YH ; Lu, P ; Zheng, JJ ; Zhang, M ; Qiu, ZL ; Yu, X |
| 刊名 | BMC MEDICAL GENETICS
 |
| 出版日期 | 2012 |
| 卷号 | 13期号:Aug页码:-75 |
| 关键词 | SEVERE MENTAL-RETARDATION CREATINE TRANSPORTER DEFICIENCY CPG-BINDING PROTEIN-2 GENE COPY NUMBER RETT-SYNDROME MECP2 GENE NEUROLOGICAL SYMPTOMS RECURRENT INFECTIONS XQ28 DISORDER |
| ISSN号 | 1471-2350 |
| 通讯作者 | Xu, X (reprint author), Fudan Univ, Childrens Hosp, Dept Child Healthcare, Shanghai 200433, Peoples R China.,xuxiu@shmu.edu.cn |
| 英文摘要 | 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. |
| 学科主题 | Genetics & Heredity |
| 收录类别 | SCI |
| 资助信息 | Ministry of Science and Technology [2011CBA00400]; National Science Foundation of China [31021063, 31125015]; Chinese Academy of Sciences; Shanghai Municipal Health Bureau [GWDTR201220, 12GWZX0301] |
| 语种 | 英语 |
| 公开日期 | 2013-06-04 |
| 源URL | [http://ir.sibs.ac.cn/handle/331001/2472]  |
| 专题 | 上海神经科学研究所_神经所(总) |
| 推荐引用方式 GB/T 7714 | Xu, X,Xu, Q,Zhang, Y,et al. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections[J]. BMC MEDICAL GENETICS,2012,13(Aug):-75. |
| APA | Xu, X.,Xu, Q.,Zhang, Y.,Zhang, XD.,Cheng, TL.,...&Yu, X.(2012).A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.BMC MEDICAL GENETICS,13(Aug),-75. |
| MLA | Xu, X,et al."A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections".BMC MEDICAL GENETICS 13.Aug(2012):-75. |
入库方式： OAI收割
来源：上海神经科学研究所
浏览0
下载0
收藏0
其他版本
除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。