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学科主题: 临床医学
题名:
MECP2 duplication syndrome in a Chinese family
作者: Zhang, Qingping; Zhao, Ying; Yang, Yanling; Bao, Xinhua
关键词: MECP2 duplication syndrome ; Chinese family ; MLPA ; aCGH ; Skewed X chromosome inactivation
刊名: BMC MEDICAL GENETICS
发表日期: 2015-12-16
DOI: 10.1186/s12881-015-0264-0
卷: 16
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]: CONGENITAL CENTRAL HYPOVENTILATION ; CPG-BINDING PROTEIN-2 ; GENE COPY NUMBER ; RETT-SYNDROME ; X-CHROMOSOME ; REARRANGEMENTS ; MICE ; OVEREXPRESSION ; MUTATIONS ; DISORDER
英文摘要:

Background: Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss-or gain-function of this gene may contribute to neurodevelopmental disorders. The aim of this study is to delineate the clinical characteristics of MECP2 duplication syndrome and the hereditary mechanism in a Chinese family.

Case presentation: We identified a Chinese family with three persons carry MECP2 gene duplication: a boy, his mother and his grandmother. The duplication segment which was detected by multiplex ligation-dependent probe amplification (MLPA) included gene MECP2, interleukin-1 receptor-associated kinase 1 (IRAK1), filamin A (FLNA), and L1 cell adhesion molecule (L1CAM). Furthermore, array comparative genomic hybridization (aCGH) was performed on the mother, showed that MECP2 containing duplication was 510 Kb (153,113,885-153,624,154), including 16 other genes except MECP2. The boy showed most symptoms of MECP2 duplication syndrome. His mother and maternal grandmother were asymptomatic. Both female carriers had a skewed X chromosome inactivation (XCI), which were 80: 20 and 74: 26 respectively.

Conclusion: To our knowledge, this is the second reported Chinese Han family with MECP2-containing duplications. And this patient had recurrent respiratory infections which was different from the first two Chinese-brother cases. MECP2 is the core gene responsible for MECP2 duplication syndrome. XCI may play an important role in modulating the clinical manifestation.

语种: 英语
所属项目编号: Z121107001012049
项目资助者: Beijing Municipal Science &amp ; Technology Commission ; 985 Peking University ; Clinical Hospital Cooperation Project
WOS记录号: WOS:000366690800001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/67021
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: Peking Univ, Dept Pediat, Hosp 1, Beijing 100034, Peoples R China

Recommended Citation:
Zhang, Qingping,Zhao, Ying,Yang, Yanling,et al. MECP2 duplication syndrome in a Chinese family[J]. BMC MEDICAL GENETICS,2015,16.
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