title: [Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients].
abstract: OBJECTIVE
  To analysis the clinic and genotype in two Chinese patients with Dyskeratosis congenita (DC).
  
  
  METHODS
  The two patients were characterized by mucocutaneous abnormalities (abnormal nails, lacey reticular pigmentation, and oral leukoplakia), bone marrow failure. They were diagnosed with DC. DC genes were amplified by polymerase chain reaction (PCR), including DKC1, TERT, TERC, TINF2, NOP10, NHP2, then DNA sequencing was performed for abnormal exons.
  
  
  RESULTS
  An abnormal peak was found in exon 6 of TINF2 gene of the two patients. DNA sequencing showed a 845G→A transition in TINF2 gene in the two patients.
  
  
  CONCLUSIONS
  We should think about DC if the young patients with mucocutaneous abnormalities and marrow failure. TINF2 c.845G→A(R282H) does exist in the two patients. It is reported in China for the first time.
authors.affiliation: Capital Institute of Pediatrics, Beijing, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Liu
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Shi
authors.forename: Tian-you
authors.initials: TY
authors.lastname: Wang
authors.forename: Zi-qin
authors.initials: ZQ
authors.lastname: Liu
authors.forename: Tao
authors.initials: T
authors.lastname: Hu
authors.forename: Wei
authors.initials: W
authors.lastname: Fan
authors.forename: Jing
authors.initials: J
authors.lastname: Cao
authors.forename: Ran
authors.initials: R
authors.lastname: Hou
authors.forename: Chao
authors.initials: C
authors.lastname: Liang
authors.forename: Shi-ang
authors.initials: SA
authors.lastname: Huang
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D034501:Telomere-Binding Proteins / Q000235:genetics*
chemical_list: C440868:TINF2 protein, human; D034501:Telomere-Binding Proteins