Haematologica
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Haematologica, Vol 91, Issue 5, 707-708
Copyright © 2006 by Ferrata Storti Foundation

Case Reports

TERC mutations in children with refractory cytopenia

CA Ortmann, CM Niemeyer, A Wawer, W Ebell, I Baumann, and CP Kratz

Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.


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