title: Familial pulmonary fibrosis.
abstract: The occurrence of pulmonary fibrosis in numerous individuals from the same family suggests a genetic cause for the disease. During the last 10 years, mutations involving proteins from the telomerase complex and from the surfactant system have been identified in association with pulmonary fibrosis. Mutations of TERT, the coding gene for the telomerase reverse transcriptase, are the most frequently identified mutations and are present in 15% of cases of familial pulmonary fibrosis. Other mutations (TERC, surfactant proteins genes) are only rarely evidenced in adults. Patients with mutations involving the telomerase complex may present with pulmonary fibrosis, hematologic, cutaneous or liver diseases. Other genetic variations associated with pulmonary fibrosis such as a polymorphism in the promoter of MUC5B or a polymorphism in TERT have been recently described, and could be considered to be part of a polygenic transmission. Evidence for mutations associated with the development of pulmonary fibrosis raises numerous clinical questions from establishing a diagnosis, providing counselling to deciding on therapy, and requires specific studies. From a pathophysiological point of view, the function of the genes highlights the central role of alveolar epithelium and aging in fibrogenesis.
authors.affiliation: Inserm, unité 1152, DHU FIRE, service de pneumologie A, centre de compétence maladies rares pulmonaires, hôpital Bichat, AP-HP, 46, rue Henri-Huchard, 75018 Paris, France. Electronic address: raphael.borie@bch.aphp.fr.
authors.forename: R
authors.initials: R
authors.lastname: Borie
authors.affiliation: Service de génétique, hôpital Bichat, AP-HP, 75018 Paris, France; Université Paris Diderot Sorbonne Paris Cité, 75013 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Kannengiesser
authors.affiliation: Inserm, UMR S-933, service de pneumologie pédiatrique, centre de référence des maladies respiratoires rares, hôpital Armand-Trousseau, AP-HP, université Pierre-et-Marie-Curie, 75012 Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Nathan
authors.affiliation: Inserm, unité 1152, DHU FIRE, service de pneumologie A, centre de compétence maladies rares pulmonaires, hôpital Bichat, AP-HP, 46, rue Henri-Huchard, 75018 Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Tabèze
authors.affiliation: Inserm, unité 1152, DHU FIRE, service de pneumologie A, centre de compétence maladies rares pulmonaires, hôpital Bichat, AP-HP, 46, rue Henri-Huchard, 75018 Paris, France; Service de génétique, hôpital Bichat, AP-HP, 75018 Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Pradère
authors.affiliation: Inserm, unité 1152, DHU FIRE, service de pneumologie A, centre de compétence maladies rares pulmonaires, hôpital Bichat, AP-HP, 46, rue Henri-Huchard, 75018 Paris, France; Université Paris Diderot Sorbonne Paris Cité, 75013 Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Crestani
mesh_terms: D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D019098:Telomerase / Q000235:genetics*
chemical_list: C509186:TERT protein, human; D019098:Telomerase
keywords: Exome; Fibrose pulmonaire idiopathique; Idiopathic pulmonary fibrosis; Surfactant; TERT; Telomerase; Télomérase