CTC1 Mutations in a patient with dyskeratosis congenita

Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24.


Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome Coats plus. This report confirms a molecular link between DC and Coats plus and expands the genotype-phenotype complexity observed in telomere-related genetic disorders.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Dyskeratosis Congenita / genetics*
  • Female
  • Flow Cytometry
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Mutation / genetics*
  • Retinal Telangiectasis / genetics*
  • Telomere / genetics
  • Telomere-Binding Proteins / genetics*
  • Tomography, X-Ray Computed


  • Ctc1 protein, human
  • Telomere-Binding Proteins