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. Author manuscript; available in PMC: 2017 May 16.
Published in final edited form as: Eur Respir J. 2016 Aug 18;48(6):1710–1720. doi: 10.1183/13993003.00308-2016

TABLE 3.

Multidisciplinary diagnoses of interstitial lung disease (ILD) subjects with heterozygous TERT, TERC, RTEL1 or PARN mutations from the same kindred

Gene Mutation Multidisciplinary diagnoses of family members with ILD
Concordant
 TERT p.Thr874Arg IPF, IPF
 TERT p.His925Gln IPF, IPF
 TERT p.Gly1063Ser IPF, IPF
Discordant
 TERT p.Val144Met PPFE, chronic hypersensitivity pneumonitis, unclassifiable
 TERT p.Arg486Cys IPF, IPAF
 TERT p.Arg631Gln IPF, PPFE
 TERT p.Pro702Leu IPF, IPF, unclassifiable
 TERT p.Arg865His IPF, IPF, IPF, DIP, unclassifiable
 TERT p.Arg951Trp PPFE, IPF
 TERT p.Leu1019Phe Chronic hypersensitivity pneumonitis, IPAF
 TERC r.182g>c Chronic hypersensitivity pneumonitis, PPFE
 RTEL1 p.Gly201GlufsX15 IPF, IPAF
 RTEL1 p.Pro484Leu Unclassifiable, IPF
 RTEL1 p.Gln669X Chronic hypersensitivity pneumonitis, PPFE
 PARN c.246–2A>G Unclassifiable, IPAF

IPF: idiopathic pulmonary fibrosis; IPAF: interstitial pneumonia with autoimmune features; PPFE: pleuroparenchymal fibroelastosis; DIP: desquamative interstitial pneumonia.