title: Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
abstract: BACKGROUND
  Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D.
  
  
  METHODS
  We retrospectively retrieved a series of eight patients from two hospitals in China and conducted Sanger sequencing for all of the patients and their parents if available. We also reviewed the literature and plotted the mutation spectrum of KMT2D.
  
  
  RESULTS
  The patients generally presented with typical clinical manifestations as previously reported in other countries. Uncommon symptoms included spinal bifida and Dandy-Walker malformation. With respect to the mutations, five mutations were found in five patients, including two frameshift indels, one nonsense mutation and two missense mutations.
  
  
  CONCLUSIONS
  This is the first case series on Kabuki syndrome in Mainland China. Unusual symptoms, such as spinal bifida and Dandy-Walker syndrome, suggested that neurological developmental defects may accompany Kabuki syndrome. This case series helps broaden the mutation spectrum of Kabuki syndrome and adds information regarding the manifestations of Kabuki syndrome.
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. 582162187@qq.com.
authors.forename: Shuang
authors.initials: S
authors.lastname: Liu
authors.affiliation: Peking Union Medical College, Beijing, China. hongxiafeitsinghua@gmail.com.
authors.forename: Xiafei
authors.initials: X
authors.lastname: Hong
authors.affiliation: Peking Union Medical College, Beijing, China. scjohnconnor@gmail.com.
authors.forename: Cheng
authors.initials: C
authors.lastname: Shen
authors.affiliation: BGI research, Shenzhen, China. shiquan@genomics.cn.
authors.forename: Quan
authors.initials: Q
authors.lastname: Shi
authors.affiliation: Peking Union Medical College, Beijing, China. wangjian_511@sina.com.
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: Endocrinology Department, Children's hospital of ChongQing Medical University, ChongQing, China. xiongfw2013@163.com.
authors.forename: Feng
authors.initials: F
authors.lastname: Xiong
authors.affiliation: Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. zhengqingqiu33@aliyun.com.
authors.forename: Zhengqing
authors.initials: Z
authors.lastname: Qiu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics; D005145:Face / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006402:Hematologic Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics; D015837:Vestibular Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D004268:DNA-Binding Proteins; C120898:KMT2D protein, human; D009363:Neoplasm Proteins