RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.

doi:10.1038/s41467-026-76650-w

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Article

RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.

Nature communications - 26 Aug 2026

Deimler Nathaniel, Orioli Alex, Holthöfer Laura, Linke Matthias, Bobon Nadine, Engelhardt Verena, Erichsen Lars, Paul Norbert W, Meyer Robert, Beier Fabian, Schweiger Susann, Baumann Peter

Abstract excerpt

Vertebrate telomeres, the sequences protecting the end of linear chromosomes, are composed of conserved hexameric GGTTAG repeats. Here we present a C50>A telomerase RNA template mutation that results in the incorporation of the variant telomeric repeat GTTTAG in a family with dyskeratosis congenita primarily presenting as idiopathic pulmonary fibrosis. The mutant telomerase shows reduced processivity, as...

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PMID: 42649225
DOI: 10.1038/s41467-026-76650-w
PMCID: PMC13518968

Genes

RTEL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.