Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia

Pediatr Blood Cancer. 2010 Sep;55(3):550-3. doi: 10.1002/pbc.22589.


Dyskeratosis congenita (DC) is a genetically heterogeneous syndrome characterized by reticular skin pigmentation, nail dystrophy, mucosal leukoplakia, short telomeres, and a predisposition to bone marrow failure and malignancy. Patients carrying mutations in TERT show a wide clinical spectrum of abnormalities, including classical DC, isolated bone marrow failure and lung fibrosis. Here, we report the clinical description and biological analysis of a patient with compound heterozygosity for two new missense mutations in TERT (V96L and V119L). Both mutations segregate with a short telomere phenotype, though only V96L segregates with clinical signs of DC.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Aplastic / genetics*
  • Child
  • Dyskeratosis Congenita / genetics
  • Heterozygote*
  • Humans
  • Male
  • Mutation, Missense*
  • Sequence Analysis, DNA
  • Telomerase / genetics*
  • Telomere / pathology


  • TERT protein, human
  • Telomerase