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学科主题: 临床医学
题名:
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
作者: 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
发表日期: 2012-12-01
DOI: 10.1111/j.1399-0004.2011.01838.x
卷: 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
所属项目编号: 7092102 ; 572568
项目资助者: Natural Science Foundation of Beijing ; NHMRC
WOS记录号: WOS:000310728700006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58469
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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