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

ABSTRACT:

Background

Dyskeratosis congenita is a cancer-prone bone marrow failure syndrome caused by aberrations in telomere biology.

Design and methods

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).

Results

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 i

SUBMITTER: Alter BP 

PROVIDER: S-EPMC3291588 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature