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Contribution of mutations in genes of the surfactant system to idiopathic interstitial pneumonia (IIP)

Nadia Nathan 1 Marie Legendre 2 Emilie Filhol-Blin 3 Raphael Borie 4 Diane Bouvry 5 Mickael Afanetti 6 Kais Ahmad Juliette Albuisson 7 Nathalie Allou Carole Bailly 8 Keren Borensztajn 9 Afifaa Butt Bruno Copin 10 Aurore Coulomb L'Hermine Bruno Crestani 11 Jean-Charles Dalphin 12 Marie-Laure Dalphin 13 Florence Dastot Le Moal 14 Christophe Delacourt 15 Bertrand Delaisi 16 Antoine Deschildre 17 Paul de Vuyst 18 Bruno Diot 19 Claire Dromer 20 Jean-Christophe Dubus 21 Philippe Duquesnoy 2 Lisa Giovannini-Chami 22 Violaine Giraud 23 Carine Gomez 24 Anne Gondouin 25 Laurent Gouya 26 Alice Hadchouel 27 Sandrine Hirschi 28 Véronique Houdouin 29 Dominique Israel Biet Caroline Kannengiesser 30 Claire Lefèvre Effrosyne Manali 31 Sylvain Marchand-Adam 32 Christophe Marguet 33 Jean-Marc Naccache 34 Valerie Nau Hilario Nunes 35 Oisin O'Connell Katherine O'Reilly Spyros Papiris 31 Clement Picard 36 Grégoire Prévot 37 Philippe Reix 38 Martine Reynaud-Gaubert 39, 40 Elisabeth Rivaud 36 Elise Schaefer 41 Aurélie Tatopoulos 42 Julie Traclet 43 Françoise Troussier 44 Dominique Valeyre 5 Vincent Cottin 45 Annick Clement 46 Serge Amselem 2 
Abstract :
Background: Children and adult IIP are heterogeneous and severe disorders. Whereas telomerase gene mutations are preferentially found in adult IIP, surfactant gene mutations are mainly reported in children. The study aimed to assess the contribution of surfactant gene mutations in a large pediatric and adult IIP cohort.
Methods: Patients with IIP were prospectively included in the French network of rare lung diseases centres. All SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, NKX2-1 exons and flanking intronic sequences were analyzed. The identified variations were assessed in silico. Only pathogenic or likely pathogenic mutations were taken into account.
Results: 477 patients were included in 4 years (190 children; 287 adults). The mean age at diagnosis was 40 years (0-100) and the sex ratio was 1.47 M/F. The IIP was familial in 22% of cases. A personal or family history of lung cancer was found in 44 (15%) adults. A mutation was identified in a surfactant gene in 45 (9.4%) patients, including 22 (11.6%) children and 23 (8%) adults. Mutations were identified in all the studied genes in children and in adults, except for a SFTPB mutation identified in an adult. A mutation was found in 25% of the 44 adults with a history of IIP and lung cancer (SFTPA = 10, SFTPC = 1).
Discussion and conclusion: Surfactant gene mutations encounter for an important part of IIP, thereby strongly suggesting that these molecular analyses should be part of the diagnosis process of IIP, regardless of the patient’s age, especially in case of family history of IIP and/or lung cancer. Such systematic approach should help guiding the most relevant genetic tests to be performed according to the disease phenotype.

This is an ERS International Congress abstract. No full-text version is available.
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Submitted on : Tuesday, January 14, 2020 - 12:21:49 PM
Last modification on : Friday, August 5, 2022 - 2:56:38 PM

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Nadia Nathan, Marie Legendre, Emilie Filhol-Blin, Raphael Borie, Diane Bouvry, et al.. Contribution of mutations in genes of the surfactant system to idiopathic interstitial pneumonia (IIP). ERS International Congress 2018 abstracts, Sep 2018, Paris, France. pp.OA547, ⟨10.1183/13993003.congress-2018.OA547⟩. ⟨hal-02438688⟩

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