Nov 8, 2011

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita

Blanche P AlterSharon A Savage


Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology. We studied 65 patients with dyskeratosis congenita and 127 unaffected relatives. Telomere length was measured by automated multicolor flow fluorescence in situ hybridization in peripheral blood leukocyte subsets. We age-adjusted telomere length using Z-scores (standard deviations from the mean for age). We confirmed that telomere lengths below the first percentile for age are very sensitive and specific for the diagnosis of dyskeratosis congenita. We provide evidence that lymphocytes alone and not granulocytes may suffice for clinical screening, while lymphocyte subsets may be required for challenging cases, including identification of silent carriers. We show for the first time using flow fluorescence in situ hybridization that the shortest telomeres are associated with severe variants (Hoyeraal-Hreidarsson and Revesz syndromes), mutations in DKC1, TINF2, or unknown genes, and moderate or severe aplastic anemia. In the first longitudinal follow up of dyskeratosis congenita patients, we demonstrate that telomere lengths decline with age, in contrast to the apparent stable telomere length observed in cross-sectional d...Continue Reading

Mentioned in this Paper

Bone Marrow Failure Syndromes
Fluorescent in Situ Hybridization
Aplastic Anemia
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Telomere Shortening
Granulocyte Count

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