title: [Clinical features and genotype analysis in a case of dyskeratosis congenita].
abstract: OBJECTIVE
  To analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC).
  
  
  METHODS
  We reviewed the clinical data of the case and amplified 7 DC-related genes (including DKC1,TERT,TERC,TINF2,NOP10, NHP2 and WRAP53) using polymerase chain reaction for DNA sequence analysis to identify the abnormal exons.
  
  
  RESULTS
  DNA sequence analysis showed a c.85-15T>C mutation in DKC1 gene of the patient. His mother was a carrier of the mutated gene and presented with partial clinical features such as abnormal nails.
  
  
  CONCLUSIONS
  The mutation of c.85-15T>C in DKC1 gene was reported for the first time in China. The diagnosis of DC should be considered if a young patient presents with mucocutaneous abnormalities, bone marrow failure, cancer susceptibility and a family history of cancer. Early genetic tests can improve the diagnosis rates and reduce misdiagnosis and missed diagnosis.
authors.affiliation: Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. E-mail: yss1329@163.com.
authors.forename: Shan-Shan
authors.initials: SS
authors.lastname: Yuan
authors.forename: Yi-Dan
authors.initials: YD
authors.lastname: Lu
authors.forename: Cui-Ling
authors.initials: CL
authors.lastname: Wu
authors.forename: Hui-Ping
authors.initials: HP
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Ge
authors.forename: Yu-Ming
authors.initials: YM
authors.lastname: Zhang
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D002681:China; D019871:Dyskeratosis Congenita / Q000235:genetics* / Q000473:pathology*; D005091:Exons; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins