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<p>Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease, often linked to telomere-related gene (TRG) mutations in familial forms. Telomere biology disorders can also manifest with systemic features such as bone marrow failure and liver disease. We report a 72-year-old woman with a family history of pulmonary fibrosis and premature hair greying. The patient had a history of bronchopneumonia at age 20 and pulmonary tuberculosis at age 23. Genetic testing identified a novel heterozygous nonsense variant in Regulator of Telomere Elongation Helicase 1 (<i>RTEL1)</i> (NM_001283009.2:c.2962&#xa0;C &gt; T; p.Gln988Ter). This variant introduces a premature stop codon, likely leading to loss of function. The variant, absent from major population databases, was classified as “likely pathogenic” according to ACMG criteria. <i>RTEL1</i> encodes a DNA helicase essential for DNA replication and telomere maintenance, and its disruption contributes to epithelial cell dysfunction in pulmonary fibrosis. This case expands the mutational and clinical spectrum of RTEL1-associated interstitial lung diseases and underscores the importance of genetic testing in patients with familial pulmonary fibrosis.</p>

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A novel RTEL1 nonsense variant in a case of familial pulmonary fibrosis: clinical description and genetic implications

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月7日

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  • Giovanni Franco,
  • Francesca Bertola,
  • Filippo Aloisi,
  • Samuele Promi,
  • Umberto Zanini,
  • Paola Faverio,
  • Angela Bentivegna,
  • Raphaël Borie,
  • Bruno Crestani,
  • Giovanni Cazzaniga,
  • Fabrizio Luppi

摘要

Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease, often linked to telomere-related gene (TRG) mutations in familial forms. Telomere biology disorders can also manifest with systemic features such as bone marrow failure and liver disease. We report a 72-year-old woman with a family history of pulmonary fibrosis and premature hair greying. The patient had a history of bronchopneumonia at age 20 and pulmonary tuberculosis at age 23. Genetic testing identified a novel heterozygous nonsense variant in Regulator of Telomere Elongation Helicase 1 (RTEL1) (NM_001283009.2:c.2962 C > T; p.Gln988Ter). This variant introduces a premature stop codon, likely leading to loss of function. The variant, absent from major population databases, was classified as “likely pathogenic” according to ACMG criteria. RTEL1 encodes a DNA helicase essential for DNA replication and telomere maintenance, and its disruption contributes to epithelial cell dysfunction in pulmonary fibrosis. This case expands the mutational and clinical spectrum of RTEL1-associated interstitial lung diseases and underscores the importance of genetic testing in patients with familial pulmonary fibrosis.