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

Anna Aspesi, Stefano Vallero, Alberto Rocci, Elisa Pavesi, Marina Lanciotti, Ugo Ramenghi, Irma Dianzani

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)550-553
Number of pages4
JournalPediatric Blood and Cancer
Issue number3
Publication statusPublished - Sep 2010


  • Aplastic anemia
  • Dyskeratosis congenita
  • Telomere
  • TERT

ASJC Scopus subject areas

  • Medicine(all)
  • Hematology
  • Oncology
  • Pediatrics, Perinatology, and Child Health


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