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学科主题临床医学
Molecular and clinical characterization of Angelman syndrome in Chinese patients
Bai, J. -L.1; Qu, Y. -J.1; Jin, Y. -W.1; Wang, H.1; Yang, Y. -L.2; Jiang, Y. -W.2; Yang, X. -Y.3; Zou, L. -P.4; Song, F.1
关键词Angelman syndrome clinical characterization genetic analysis pathogenic mechanism ubiquitin-protein ligase E3A
刊名CLINICAL GENETICS
2014-03-01
DOI10.1111/cge.12155
85期:3页:273-277
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者Science Foundation of Capital Institute of Pediatrics ; Science Foundation of Capital Institute of Pediatrics
研究领域[WOS]Genetics & Heredity
关键词[WOS]MUTATIONS ; FEATURES ; DELETION ; PROTEIN ; UBE3A ; GENE
英文摘要

Angelman syndrome (AS) is a neurobehavioral disorder caused by lack of function of the maternal copy of the ubiquitin-protein ligase E3A (UBE3A) gene. In our study, 49 unrelated patients with classic AS phenotypes were confirmed by methylation-specific PCR (MS-PCR) analysis, short tandem repeat linkage analysis, and mutation screening of the UBE3A gene. Among the Chinese AS patients, 83.7% (41/49) had deletions on maternal chromosome 15q11.2-13. Paternal uniparental disomy, imprinting defects, and UBE3A gene mutations each accounted for 4.1% (2/49). Two AS patients were confirmed by MS-PCR analysis, but the pathogenic mechanism was unknown because their parents′ samples were unavailable. Of the two described UBE3A gene mutations, that is, p.Pro400His (c.1199C>A) and p.Asp563Gly (c.1688A>G), the latter has not been reported previously. Mutation transmission analysis showed that the p.Pro400His and p.Asp563Gly mutations originated from asymptomatic mothers. The patients with the maternal deletion showed AS clinical manifestations that were consistent with other studies. However, the incidence of microcephaly (36.7%, 11/30) was lower than that in the Caucasian population (approximately 80%), but similar to that of the Japanese population (34.5%). Our study demonstrated that the occurrence of microcephaly in AS may vary among different populations.

语种英语
所属项目编号2007-A01
资助者Science Foundation of Capital Institute of Pediatrics ; Science Foundation of Capital Institute of Pediatrics
WOS记录号WOS:000330131300012
Citation statistics
Cited Times:4[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/60850
Collection北京大学第一临床医学院_儿科
作者单位1.Capital Inst Pediat, Dept Med Genet, Beijing 100020, Peoples R China
2.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
3.Capital Med Univ, Beijing Childrens Hosp, Dept Neurol, Beijing 100045, Peoples R China
4.Gen Hosp Chinese Peoples Liberat Army, Dept Pediat, Beijing 100852, Peoples R China
Recommended Citation
GB/T 7714
Bai, J. -L.,Qu, Y. -J.,Jin, Y. -W.,et al. Molecular and clinical characterization of Angelman syndrome in Chinese patients[J]. CLINICAL GENETICS,2014,85(3):273-277.
APA Bai, J. -L..,Qu, Y. -J..,Jin, Y. -W..,Wang, H..,Yang, Y. -L..,...&Song, F..(2014).Molecular and clinical characterization of Angelman syndrome in Chinese patients.CLINICAL GENETICS,85(3),273-277.
MLA Bai, J. -L.,et al."Molecular and clinical characterization of Angelman syndrome in Chinese patients".CLINICAL GENETICS 85.3(2014):273-277.
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