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Homozygous NOP10 variant presenting with severe pulmonary fibrosis and multisystem involvement: a case report

Year: 2026
Type: article
Study design: Case Report
Abstract: Genetic factors play an important role in the pathogenesis of interstitial lung diseases. Recent studies have shown that approximately 30% of familial interstitial lung diseases are associated with mutations in telomere-related genes. Herein, we present a young patient with severe pulmonary fibrosis and multisystem involvement in whom a homozygous NOP10 variant was identified. A 29-year-old man presented with progressive exertional dyspnea, cough, and fever. Thoracic computed tomography demonstrated a probable usual interstitial pneumonia pattern. Laboratory investigations showed anemia, thrombocytopenia, neutropenia, and elevated lactate dehydrogenase levels, while hematological evaluation revealed a hypocellular bone marrow. Abdominal imaging demonstrated findings compatible with chronic liver disease. Due to parental consanguinity and a positive family history, alpha-1 antitrypsin analysis and whole-exome sequencing (WES) were performed. Despite treatment, his clinical condition continued to deteriorate, with progression to multiorgan failure, and he died on the 21st day of hospitalization. Genetic results obtained after the patient’s death revealed the presence of the alpha-1 antitrypsin Pi*M/P Lowell variant and the homozygous NOP10 variant. In conclusion, to the best of our knowledge, this case is the first to describe a patient with a homozygous NOP10 p.Arg34Trp variant who presented with severe pulmonary fibrosis and multisystem involvement in the absence of the classic mucocutaneous triad of dyskeratosis congenita (nail dystrophy, reticular skin pigmentation, and oral leukoplakia).
DOI: 10.1186/s12890-026-04626-z
Language: English
Field: Medicine
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W7203837653
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