Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort

American Journal of Respiratory and Critical Care Medicine

Volumn 182, Issue 11, 2010, Pages 1419-1425

  Van Moorsel, Coline H M ^a,b   Van Oosterhout, Matthijs F M ^a   Barlo, Nicole P ^a   De Jong, Pim A ^b   Van Der Vis, Joanne J ^a   Ruven, Henk J T ^a   Van Es, H Wouter ^a   Van Den Bosch, Jules M M ^a,b   Grutters, Jan C ^a,b  

^a ST ANTONIUS HOSPITAL   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

ABCA3; Idiopathic interstitial pneumonia; Idiopathic pulmonary fibrosis; Lung cysts

Indexed keywords

SURFACTANT PROTEIN C;

ADULT; AGED; ARTICLE; BRONCHIOLITIS OBLITERANS ORGANIZING PNEUMONIA; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DESQUAMATIVE INTERSTITIAL PNEUMONITIS; FAMILIAL PULMONARY FIBROSIS; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; INTERSTITIAL PNEUMONIA; LUNG CYST; LUNG FIBROSIS; LUNG NODULE; MAJOR CLINICAL STUDY; MALE; NONSPECIFIC INTERSTITIAL PNEUMONIA; PRIORITY JOURNAL; USUAL INTERSTITIAL PNEUMONIA;

ADULT; AGED; AGED, 80 AND OVER; COHORT STUDIES; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IDIOPATHIC INTERSTITIAL PNEUMONIAS; MALE; MIDDLE AGED; MUTATION; NETHERLANDS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PULMONARY FIBROSIS; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; STATISTICS, NONPARAMETRIC;

EID: 78649859428     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/rccm.200906-0953OC     Document Type: Article

References (36)

1. Garantziotis S, Steele MP, Schwartz DA. Pulmonary fibrosis: thinking outside of the lung. J Clin Invest 2004;114:319-321. (Pubitemid 39071603)
2. Meltzer EB, Noble PW. Idiopathic pulmonary fibrosis. Orphanet J Rare Dis 2008;3:8.
3. Steele MP, Speer MC, Loyd JE, Brown KK, Herron A, Slifer SH, Burch LH, Wahidi MM, Phillips JA, Sporn TA, et al. Clinical and pathologic features of familial interstitial pneumonia. Am J Respir Crit Care Med 2005;172:1146-1152.
4. Grutters JC, du Bois RM. Genetics of fibrosing lung diseases. Eur Respir J 2005;25:915-927.
5. Loyd JE. Pulmonary fibrosis in families. Am J Respir Cell Mol Biol 2003;29:S47-S50.
6. Marshall RP, Puddicombe A, Cookson WO, Laurent GJ. Adult familial cryptogenic fibrosing alveolitis in the UK. Thorax 2000;55:143-146.
7. Hodgson U, Laitinen T, Tukiainen P. Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland. Thorax 2002;57:338-342.
8. Donohue WL, Laski B, Uchida I, Munn JD. Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. Pediatrics 1959;24:786-813.
9. Lee H, Ryu JH, Wittmer MH, Hartman TE, Lymp JF, Tazelaar HD, Limper AH. Familial idiopathic pulmonary fibrosis: clinical features and outcome. Chest 2005;127:2034-2041. (Pubitemid 46260093)
10. Nishiyama O, Taniguchi H, Kondoh Y, Kimura T, Katoh T, Oishi T, Matsumoto S, Yokoi T, Takagi K, Shimokata K, et al. Familial idiopathic pulmonary fibrosis: serial high-resolution computed tomography findings in 9 patients. J Comput Assist Tomogr 2004;28:443-448.
11. Nogee LM, Dunbar AE, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med 2001;344:573-579.
12. Nogee LM, Dunbar AE, Wert S, Askin F, Hamvas A, Whitsett JA. Mutations in the surfactant protein C gene associated with interstitial lung disease. Chest 2002;121:20S-21S.
13. Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, Deutsch G, Nogee LM. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005;146:370-375. (Pubitemid 40341748)
14. Hamvas A, Nogee LM, White FV, Schuler P, Hackett BP, Huddleston CB, Mendeloff EN, Hsu F, Wert SE, Gonzales LW, et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol 2004;30:771-776.
15. Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, Mulugeta S, Müller KM, Bahuau M, Beers MF. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004;24:30-39.
16. Stevens PA, Pettenazzo A, Brasch F, Mulugeta S, Baritussio A, Ochs M, Morrison L, Russo SJ, Beers MF. Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. Pediatr Res 2005;57:89-98.
17. Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, Counil F, de Blic J, Taam RA, Le Bourgeois M, et al. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet 2009;46:490-494.
18. Chibbar R, Shih F, Baga M, Torlakovic E, Ramlall K, Skomro R, Cockcroft DW, Lemire EG. Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis. Mod Pathol 2004;17:973-980.
19. Weaver TE, Conkright JJ. Function of surfactant proteins B and C. Annu Rev Physiol 2001;63:555-578.
20. Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N. ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells. FEBS Lett 2001;508:221-225.
21. Ban N, Matsumura Y, Sakai H, Takanezawa Y, Sasaki M, Arai H, Inagaki N. ABCA3 as a lipid transporter in pulmonary surfactant biogenesis. J Biol Chem 2007;282:9628-9634.
22. Bullard JE, Nogee LM. Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. Pediatr Res 2007;62:176-179.
23. Marney A, Lane KB, Phillips JA, Riley DJ, Loyd JE. Idiopathic pulmonary fibrosis can be an autosomal dominant trait in some families. Chest 2001;120:56S.
24. van Moorsel C, van Oosterhout MFM, Ruven HJT, van den Bosch JMM, Grutters JC. The occurrence and clinical characteristics of SFTPC mutations in familial idiopathic pulmonary fibrosis [abstract]. Am J Respir Crit Care Med 2007;175:A984.
25. American Thoracic Society/European Respiratory Society International Multidisciplinary Consensus Classification of the Idiopathic Interstitial Pneumonias. This joint statement of the American Thoracic Society (ATS), and the European Respiratory Society (ERS) was adopted by the ATS board of directors, June 2001 and by the ERS Executive Committee, June 2001. Am J Respir Crit Care Med 2002;165:277-304.
26. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-1081.
27. Tredano M, Griese M, Brasch F, Schumacher S, de Blic J, Marque S, Houdayer C, Elion J, Couderc R, Bahuau M. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet 2004;126:18-26. (Pubitemid 38443349)
28. Mulugeta S, Nguyen V, Russo SJ, Muniswamy M, Beers MF. A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation. Am J Respir Cell Mol Biol 2005;32:521-530.
29. Wang W, Mulugeta S, Russo SJ, Beers MF. Deletion of exon 4 from human surfactant protein C results in aggresome formation and generation of a dominant negative. J Cell Sci 2003;116:683-692.
30. Rosas IO, Ren P, Avila NA, Chow CK, Franks TJ, Travis WD, McCoy JP, May RM, Wu H, Nguyen DM, et al. Early interstitial lung disease in familial pulmonary fibrosis. Am J Respir Crit Care Med 2007;176:698-705.
31. Thomas AQ, Lane K, Phillips J, Prince M, Markin C, Speer M, Schwartz DA, Gaddipati R, Marney A, Johnson J, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002;165:1322-1328.
32. Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA 2007;104:7552-7557.
33. Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007;356:1317-1326.
34. Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet 2009;84:52-59.
35. Markart P, Ruppert C, Wygrecka M, Schmidt R, Korfei M, Harbach H, Theruvath I, Pison U, Seeger W, Guenther A, et al. Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias. Eur Respir J 2007;29:134-137. (Pubitemid 46092009)
36. Lawson WE, Grant SW, Ambrosini V, Womble KE, Dawson EP, Lane KB, Markin C, Renzoni E, Lympany P, Thomas AQ, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax 2004;59:977-980.