title: [Clinical and genetic characteristics of a patient with dyskeratosis congenita].
abstract: OBJECTIVE
  To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.
  
  
  METHODS
  The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing.
  
  
  RESULTS
  The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by multi-system abnormalities. DKC1 (1058C-T, A353V) was detected in the patient.
  
  
  CONCLUSIONS
  The patient presented with classical features of dyskeratosis congenita and DKC1 (1058C-T, A353V) did exist in this patient. X-linked recessive dyskeratosis congenita was confirmed.
authors.affiliation: Department of Hematology, Capital Institute of Pediatrics, Beijing 100020, China.
authors.forename: Jian-guo
authors.initials: JG
authors.lastname: Li
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.forename: Zhi-miao
authors.initials: ZM
authors.lastname: Lin
authors.forename: Zhi-hong
authors.initials: ZH
authors.lastname: Ma
authors.forename: Jun-hui
authors.initials: JH
authors.lastname: Li
authors.forename: Rong
authors.initials: R
authors.lastname: Liu
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Shi
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
authors.forename: Tian-you
authors.initials: TY
authors.lastname: Wang
mesh_terms: D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins