MECP2 duplication syndrome in a Chinese family

BMC Medical Genetics

Case Report

Yanling Yang¹  Xinhua Bao¹  Qingping Zhang¹  Ying Zhao¹ 

[1] Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Street, Xicheng District, 100034, Beijing, China;

关键词: MECP2;    Chinese family;    MLPA;    aCGH;    Skewed X chromosome inactivation;   

DOI  :  10.1186/s12881-015-0264-0

 received in 2015-04-26, accepted in 2015-12-14,  发布年份 2015

来源: Springer

【 摘 要 】

BackgroundMethyl-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 presentationWe 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.ConclusionTo 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.

【 授权许可】

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© Zhang et al. 2015