title: [Association between clinical outcome and gene mutation in children with Fanconi anemia].
abstract: OBJECTIVE
  To investigate the association between clinical outcome and gene mutations in children with Fanconi anemia (FA).
  
  
  METHODS
  A retrospective analysis was performed for the clinical data of six children with the same severity of FA and receiving the same treatment. At first, single cell gel electrophoresis and chromosome breakage induced by mitomycin C were performed for diagnosis. Then the gene detection kit for congenital bone marrow failure diseases or complementation test was used for genotyping of FA. Finally the association between the clinical outcome at 3, 6, 9, or 12 months after treatment and gene mutation was analyzed.
  
  
  RESULTS
  Of all the six FA children, five had FANCA type disease, and one had FANCM type disease; four children carried two or more FA gene mutations. Among the children with the same severity of FA, those with more FA mutations had a younger age of onset and poorer response to medication, and tended to progress to a severe type.
  
  
  CONCLUSIONS
  Children carrying more than two FA mutations have a poor clinical outcome, and hematopoietic stem cell transplantation should be performed as soon as possible.
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China. xfzhu@ihcams.ac.cn.
authors.forename: Li-Xian
authors.initials: LX
authors.lastname: Chang
authors.forename: Ruan-Ruan
authors.initials: RR
authors.lastname: Ren
authors.forename: Wen-Yu
authors.initials: WY
authors.lastname: Yang
authors.forename: Jia-Yuan
authors.initials: JY
authors.lastname: Zhang
authors.forename: Yang
authors.initials: Y
authors.lastname: Wan
authors.forename: Tian-Feng
authors.initials: TF
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Xiao-Juan
authors.initials: XJ
authors.lastname: Chen
authors.forename: Shuai
authors.initials: S
authors.lastname: Zhu
authors.forename: Min
authors.initials: M
authors.lastname: Ruan
authors.forename: Xia
authors.initials: X
authors.lastname: Chen
authors.forename: Xiao-Ming
authors.initials: XM
authors.lastname: Liu
authors.forename: Ben-Quan
authors.initials: BQ
authors.lastname: Qi
authors.forename: Ran-Ran
authors.initials: RR
authors.lastname: Zhang
authors.forename: Yao
authors.initials: Y
authors.lastname: Zou
authors.forename: Yu-Mei
authors.initials: YM
authors.lastname: Chen
authors.forename: Xiao-Fan
authors.initials: XF
authors.lastname: Zhu
mesh_terms: D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D012189:Retrospective Studies