title: MECP2 duplication syndrome in a Chinese family.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Street, Xicheng District, Beijing, 100034, China. zhangqp1988@126.com.
authors.forename: Qingping
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Street, Xicheng District, Beijing, 100034, China. zhaoying2008renji@163.com.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Street, Xicheng District, Beijing, 100034, China. yanlingy@vip.sina.com.
authors.forename: Yanling
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Peking University First Hospital, No.1, Xi An Men Street, Xicheng District, Beijing, 100034, China. zwhang@pku.edu.cn.
authors.forename: Xinhua
authors.initials: X
authors.lastname: Bao
mesh_terms: D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D038901:X-Linked Intellectual Disability / Q000209:etiology / Q000235:genetics*; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D010375:Pedigree; D049951:X Chromosome Inactivation
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2