Identification of a novel mutation in DKC1 in dyskeratosis congenita

Pediatr Blood Cancer. 2009 Jan;52(1):135-7. doi: 10.1002/pbc.21733.


Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X-linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X-linked DC. A novel mutation in DKC1 raised de novo in the maternal grandmother's gamete was found; this mutation is a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cell Cycle Proteins / genetics*
  • Dyskeratosis Congenita / genetics*
  • Family Health
  • Humans
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Russia


  • Cell Cycle Proteins
  • DKC1 protein, human
  • Nuclear Proteins

Associated data

  • RefSeq/NM_001363