Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

Alice Castaldo; Celine Delestrain; Rémi Diesler; Claire Merveilleux du Vignaux; Marion Onnee; Renaud Touraine; Lara Chalabreysse; Pascale Fanen; Ralph Epaud; Vincent Cottin; Alix De Becdelièvre

doi:10.1183/23120541.00472-2023

Idiopathic pulmonary fibrosis with benign SFTPC variant and pathogenic MARS1 mutations: can't see the forest for the trees!

ERJ Open Res. 2023 Nov 6;9(6):00472-2023. doi: 10.1183/23120541.00472-2023. eCollection 2023 Nov.

Authors

Alice Castaldo^{1

2

3}, Celine Delestrain^{1

4

5

3}, Rémi Diesler⁶, Claire Merveilleux du Vignaux⁶, Marion Onnee⁴, Renaud Touraine⁷, Lara Chalabreysse⁶, Pascale Fanen^{4

5

8}, Ralph Epaud^{1

4

5

9}, Vincent Cottin^{6

9}, Alix De Becdelièvre^{4

5

8

9}

Affiliations

¹ Centre Hospitalier Intercommunal de Créteil, Service de Pédiatrie Générale, Créteil, France.
² Department of Translational Medical Sciences, University Federico II, Naples, Italy.
³ A. Castaldo and C. Delestrain contributed equally.
⁴ Univ Paris Est Creteil, INSERM, IMRB, F-94010 Creteil, France.
⁵ Centre des Maladies Respiratoires Rare, Respirare, Créteil, France.
⁶ Coordinating Reference Center for Rare Pulmonary Diseases, OrphaLung, Louis Pradel Hospital, ERN-LUNG, University of Lyon, INRAE, Lyon, France.
⁷ Service de Genetique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Étienne, France.
⁸ AP-HP, Hopital Henri Mondor, DMU de Biologie-Pathologie, Département de Génétique, Créteil, France.
⁹ R. Epaud, V. Cottin and A. De Becdelièvre contributed equally.

Abstract

Even in the absence of liver disease, MARS1 screening should be considered in severe lung fibrosis of young individuals. Interpretation of the genetic variants can evolve with improvement of knowledge (databases, bioinformatic tools) over time. https://bit.ly/45OxF5E.