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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Zhang, J.1; Bao, X.1; Cao, G.1; Jiang, S.2; Zhu, X.1; Lu, H.3; Jia, L.3; Pan, H.1; Fehr, S.4; Davis, M.5; Leonard, H.4; Ravine, D.6; Wu, X.1
关键词MECP2 mutation bias parental origin Rett syndrome
刊名CLINICAL GENETICS
2012-12-01
DOI10.1111/j.1399-0004.2011.01838.x
82期:6页:526-533
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]CPG-BINDING PROTEIN-2 ; GERMLINE MOSAICISM ; ENCEPHALOPATHY ; MALES ; EXPLANATION ; PHENOTYPE ; BOY ; DNA
英文摘要

The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study were to provide a precise estimate of the parental origin of MECP2 mutations using a large Chinese sample and to assess whether parental origin varied by mutation type. The parental origin was paternal in 84/88 [95.5%, (95% confidence interval 88.7798.75)] of sporadic Chinese cases. However, in a pooled sample including data from the literature the spectrum of mutations occurring on maternally and paternally derived chromosomes differed significantly. The excess we found of single base pair gains or losses′ on maternally derived MECP2 gene alleles suggests that this mutational category is associated with an elevated risk of gonadal mosaicism, which has implications for genetic counseling.

语种英语
WOS记录号WOS:000310728700006
项目编号7092102 ; 572568
资助机构Natural Science Foundation of Beijing ; NHMRC
引用统计
被引频次:4[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/58469
专题北京大学第一临床医学院_儿科
作者单位1.FengTai Hosp, Dept Pediat, Beijing 100071, Peoples R China
2.Peking Univ First Hosp, Dept Pediat, Beijing 100034, Peoples R China
3.Maternal & Child Hlth Hosp Huaian, Dept Pediat, Huaian 223002, Jiangsu, Peoples R China
4.Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia
5.Royal Perth Hosp, Dept Anat Pathol, Neurogenet Unit, Perth, WA, Australia
6.Univ Western Australia, Sch Pathol & Lab Med, Perth, WA 6009, Australia
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Zhang, J.,Bao, X.,Cao, G.,et al. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?[J]. CLINICAL GENETICS,2012,82(6):526-533.
APA Zhang, J..,Bao, X..,Cao, G..,Jiang, S..,Zhu, X..,...&Wu, X..(2012).What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?.CLINICAL GENETICS,82(6),526-533.
MLA Zhang, J.,et al."What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?".CLINICAL GENETICS 82.6(2012):526-533.
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