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Title: A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections
Author: Xu, X ; Xu, Q ; Zhang, Y ; Zhang, XD ; Cheng, TL ; Wu, BB ; Ding, YH ; Lu, P ; Zheng, JJ ; Zhang, M ; Qiu, ZL ; Yu, X
Source: BMC MEDICAL GENETICS
Issued Date: 2012
Volume: 13, Issue:Aug, Pages:-75
Keyword: SEVERE MENTAL-RETARDATION ; CREATINE TRANSPORTER DEFICIENCY ; CPG-BINDING PROTEIN-2 ; GENE COPY NUMBER ; RETT-SYNDROME ; MECP2 GENE ; NEUROLOGICAL SYMPTOMS ; RECURRENT INFECTIONS ; XQ28 ; DISORDER
Subject: Genetics & Heredity
Corresponding Author: Xu, X (reprint author), Fudan Univ, Childrens Hosp, Dept Child Healthcare, Shanghai 200433, Peoples R China.,xuxiu@shmu.edu.cn
English Abstract: 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.
Indexed Type: SCI
Language: 英语
Content Type: 期刊论文
URI: http://ir.sibs.ac.cn/handle/331001/2472
Appears in Collections:神经所(总)_期刊论文

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Recommended Citation:
Xu, X; Xu, Q; Zhang, Y; Zhang, XD; Cheng, TL; Wu, BB; Ding, YH; Lu, P; Zheng, JJ; Zhang, M; Qiu, ZL; Yu, X.A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections,BMC MEDICAL GENETICS,2012,13():-75
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