A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections
<p>Abstract</p> <p>Background</p> <p>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 dis...
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BMC
2012-08-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://www.biomedcentral.com/1471-2350/13/75 |
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| author | Xu Xiu Xu Qiong Zhang Ying Zhang Xiaodi Cheng Tianlin Wu Bingbing Ding Yanhua Lu Ping Zheng Jingjing Zhang Min Qiu Zilong Yu Xiang |
| author_facet | Xu Xiu Xu Qiong Zhang Ying Zhang Xiaodi Cheng Tianlin Wu Bingbing Ding Yanhua Lu Ping Zheng Jingjing Zhang Min Qiu Zilong Yu Xiang |
| author_sort | Xu Xiu |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>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 <it>MECP2</it>, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism.</p> <p>Case presentation</p> <p>Here, we identified a Chinese family with two brothers both inheriting a 2.2 Mb <it>MECP2</it>-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, <it>MECP2</it> is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying <it>MECP2</it> 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 <it>MECP2</it> duplication, including recurrent respiratory infections and epilepsy.</p> <p>Conclusions</p> <p>To our knowledge, this is the first identification and characterization of Chinese Han patients with <it>MECP2-</it>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.</p> |
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| language | English |
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| spelling | doaj.art-3550069308194118b77baf40bfcacc332022-12-21T20:15:26ZengBMCBMC Medical Genetics1471-23502012-08-011317510.1186/1471-2350-13-75A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infectionsXu XiuXu QiongZhang YingZhang XiaodiCheng TianlinWu BingbingDing YanhuaLu PingZheng JingjingZhang MinQiu ZilongYu Xiang<p>Abstract</p> <p>Background</p> <p>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 <it>MECP2</it>, whose loss of function in females results in Rett syndrome, while its duplication in males results in developmental delay and autism.</p> <p>Case presentation</p> <p>Here, we identified a Chinese family with two brothers both inheriting a 2.2 Mb <it>MECP2</it>-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, <it>MECP2</it> is the most autism-associated gene among the identified CNVs. Consistently, the boys displayed clinical features in common with other patients carrying <it>MECP2</it> 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 <it>MECP2</it> duplication, including recurrent respiratory infections and epilepsy.</p> <p>Conclusions</p> <p>To our knowledge, this is the first identification and characterization of Chinese Han patients with <it>MECP2-</it>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.</p>http://www.biomedcentral.com/1471-2350/13/75MECP2AutismASDCNVChinese patients |
| spellingShingle | Xu Xiu Xu Qiong Zhang Ying Zhang Xiaodi Cheng Tianlin Wu Bingbing Ding Yanhua Lu Ping Zheng Jingjing Zhang Min Qiu Zilong Yu Xiang A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections BMC Medical Genetics MECP2 Autism ASD CNV Chinese patients |
| title | A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections |
| title_full | A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections |
| title_fullStr | A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections |
| title_full_unstemmed | A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections |
| title_short | A case report of Chinese brothers with inherited <it>MECP2-</it>containing duplication: autism and intellectual disability, but not seizures or respiratory infections |
| title_sort | case report of chinese brothers with inherited it mecp2 it containing duplication autism and intellectual disability but not seizures or respiratory infections |
| topic | MECP2 Autism ASD CNV Chinese patients |
| url | http://www.biomedcentral.com/1471-2350/13/75 |
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