Male patients with DKC1 pathogenic variants present pulmonary fibrosis at a young age and severe prognosis
Pulmonary fibrosis associated with telomere related genes (TRG) pathogenic variants are the main cause of familial pulmonary fibrosis. Dyskerin, encode by the X-localized gene DKC1, is involved in telomere biology. Only six patients with pulmonary fibrosis associated to X-linked DKC1 deficiency have been reported so far. We aimed to further characterize the pulmonary phenotype of patients affected of X-linked DKC1 deficiency by identifying new cases within a cohort of 1260 male patients with pulmonary fibrosis. We reported eight, yet undescribed, patients affected of pulmonary fibrosis associated to X-linked DKC1 deficiency. The median age at interstitial lung disease (ILD) diagnosis was 47 years-old. Four had idiopathic pulmonary fibrosis, two unclassifiable fibrosis and one idiopathic non-specific interstitial pneumonia. All patients displayed ectodermal abnormalities. All, but one, who underwent lung transplantation, died after a median survival of 22 months after ILD diagnosis. Compared to patients with pulmonary fibrosis associated with other TRG pathogenic variants, those with pulmonary fibrosis linked to X-linked DKC1 pathogenic variants are younger and have shorter survival. Early identification and referral of these patients to an expert transplantation center should be considered. <fig><object-id>erj;66/suppl_69/PA6128/F1</object-id><object-id>F1</object-id><object-id>F1</object-id><graphic></graphic></fig>
Authors
- Claire Oudin
- Magalie Viallon (ORCID: https://orcid.org/0000-0001-9118-0438)
- Élodie Lainey (ORCID: https://orcid.org/0000-0002-0224-4338)
- Anita Fattori (ORCID: https://orcid.org/0000-0001-6998-7366)
- H Morel (ORCID: https://orcid.org/0000-0001-8539-4966)
- Vincent Cottin (ORCID: https://orcid.org/0000-0002-5591-0955)
- Quentin Philippot (ORCID: https://orcid.org/0000-0003-3429-9605)
- Ibrahima Ba (ORCID: https://orcid.org/0000-0001-5338-3883)
- Abdelaziz Chaib
- Hilario Nunès (ORCID: https://orcid.org/0000-0003-2896-7347)
- Julie Traclet
- Caroline Kannengiesser (ORCID: https://orcid.org/0000-0003-2155-9383)
- Bruno Crestani (ORCID: https://orcid.org/0000-0002-2961-3455)
- Alice Guyard (ORCID: https://orcid.org/0000-0002-2406-3079)
- David Montani (ORCID: https://orcid.org/0000-0002-9358-6922)
- Vincent Bours (ORCID: https://orcid.org/0000-0002-5934-6247)
- Raphaël Borie (ORCID: https://orcid.org/0000-0002-9906-0024)
- Ophélie Evrard (ORCID: https://orcid.org/0009-0004-9782-4387)
- Marie‐Pierre Debray (ORCID: https://orcid.org/0000-0003-2109-5662)
- Abdellatif Tazi (ORCID: https://orcid.org/0000-0003-0788-7444)
- Yanmin Xu
- Armelle Schuller
- Adrien Daniel
- Emilie Bertoux
- Julien Sausserau
- Emilio Zahonero
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Université d'Orléans (FR)
- Inserm (FR)
- Institut d’Hématologie et d’Oncologie Pédiatrique (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Centre Hospitalier Intercommunal Aix-Pertuis (FR)
- Hôpital Robert-Debré (FR)
- Hôpital Avicenne (FR)
- Centre Hospitalier Universitaire de Liège (BE)
- Hôpital Louis Pradel (FR)
- Hôpital Saint-Louis (FR)
- Centre hospitalier universitaire d'Orléans (FR)
- Hôpital Bichat-Claude-Bernard (FR)
- Centre Hospitalier Saint-Joseph Saint-Luc (FR)
- Hôpital d'Hautepierre (FR)
- Bicêtre Hospital (FR)
- Hôpital Civil, Strasbourg (FR)
- Université de Picardie Jules Verne (FR)
- Université de Strasbourg (FR)
Publication Details
- Published
- 2025-09-27
- DOI
- https://doi.org/10.1183/13993003.congress-2025.pa6128
- Primary Topic
- Telomeres, Telomerase, and Senescence
- Type
- article
- Field-Weighted Citation Impact
- 0.00