Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.

ABSTRACT:

Abstract

Pathogenic germ line variants affecting proper telomere maintenance result in premature telomere shortening and cause telomere biology disorders (TBDs). Although classical dyskeratosis congenita in children is rather well defined, late-onset ("cryptic") TBDs remain underrecognized, resulting in underdiagnosis and inadequate treatment in affected adults. Here, we present a series of adult TBD cases collected through the German TBD reference center between 2014 and 2024. Patients aged ≥18 years with an age-matched telomere length (TL) <10th percentile in lymphocytes, a detection of either a variant of uncertain significance, a pathogenic, or a likely pathogenic variant in TBD-associated genes, and available clinical data were included in this analysis. Based on this, a novel

SUBMITTER: Tometten M 

PROVIDER: S-EPMC12243046 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature