Adult male patients with <i>DKC1</i> mutations present early-onset pulmonary fibrosis and severe prognosis.

ABSTRACT:

Background

Mutations in telomere-related genes (TRGs) are the main cause of monogenic familial pulmonary fibrosis. Dyskerin, encoded by the X-localised gene DKC1, is involved in telomere maintenance.

Methods

This retrospective study aimed to further characterise the pulmonary phenotype of DKC1-deficient patients with pulmonary fibrosis identified between 2010 and 2025 in our laboratory.

Results

We reported eight, as yet undescribed, to our knowledge, probands affected by pulmonary fibrosis associated with X-linked DKC1 deficiency. The median age at interstitial lung disease (ILD) diagnosis was 47 years. Four had idiopathic pulmonary fibrosis, two unclassifiable fibrosis, one idiopathic nonspecific interstitial pneumonia and one unknown. All patien

SUBMITTER: Evrard O 

PROVIDER: S-EPMC12813686 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature