title: Diagnosis of Fanconi anemia in children with atypical clinical features: a primary study.
abstract: BACKGROUND
  Fanconi anemia is a severe congenital disorder associated with mutations in a cluster of genes responsible for DNA repair. Arriving at an accurate and timely diagnosis can be difficult in cases of Fanconi anemia with atypical clinical features. It is very important to increase the rate of accurate diagnosis for such cases in a clinical setting. The purpose of this study is to explore the clinical diagnosis of Fanconi anemia in children with atypical clinical features.
  
  
  METHODS
  Six cases of Fanconi anemia with atypical clinical features were enrolled in the study, and their clinical features were recorded, their FANCA gene transcription was assessed by RT-PCR, and FANCA mutations and the ubiquitination of FANCD2 protein were analyzed using DNA sequencing and western blotting respectively.
  
  
  RESULTS
  All six cases showed atypical clinical features including no apparent deformities, lack of response to immune therapy, and progressively increasing bone marrow failure. They also have significantly increased fetal hemoglobin, negative mitomycin-induced fracture test results, and carry a FANCA gene missense mutation. Single protein ubiquitination of FANCD2 was not observed in those patients.
  
  
  CONCLUSIONS
  The combination of clinical features, FANCA pathogenic gene mutation genotype and the absence of FANCD2 protein ubiquitination are helpful in the accurate and timely diagnosis of Fanconi anemia in children.
authors.affiliation: Department of Hematology, Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Liu
authors.forename: Tao
authors.initials: T
authors.lastname: Hu
authors.forename: Jun-hui
authors.initials: JH
authors.lastname: Li
authors.forename: Chao
authors.initials: C
authors.lastname: Liang
authors.forename: Wei-yue
authors.initials: WY
authors.lastname: Gu
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Shi
authors.forename: Hong-xing
authors.initials: HX
authors.lastname: Wang
mesh_terms: D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism*; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D054875:Ubiquitination
chemical_list: C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein