Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes

Abstract excerpt

Regulator of telomere length 1 (RTEL1) mutations have been evidenced in 5–9% of familial pulmonary fibrosis; however, the phenotype of patients with interstitial lung disease (ILD) andRTEL1mutations is poorly understood. Whole exome sequencing was performed in 252 probands with ILD and we included all patients with ILD andRTEL1mutation.RTEL1expression was evaluated by immunochemistry in the lungs of controls, as...

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