A novel variant of SFTPA2 in a Han Chinese family with interstitial lung disease and lung cancer

References

• Ali M, Umstead TM, Haque R, Mikerov AN, Freeman WM, Floros J, Phelps DS. 2010. Differences in the BAL proteome after Klebsiella pneumoniae infection in wild type and SP-A-/- mice. Proteome Sci. 17(8):34.
   Google Scholar
• Antoniou KM, Margaritopoulos GA, Tomassetti S, Bonella F, Costabel U, Poletti V. 2014. Interstitial lung disease. Eur Respir Rev. 1(23):40–54.
   Google Scholar
• Azadeh N, Moua T, Baqir M, Ryu JH. 2018. Treatment of acute exacerbations of interstitial lung disease. Expert Rev Respir Med. 12:309–313.
   PubMed Web of Science ®Google Scholar
• Borie R, Danel C, Debray MP, Taille C, Dombret MC, Aubier M, Epaud R, Crestani B. 2011. Pulmonary alveolar proteinosis. Eur Respir Rev. 20:98–107.
   PubMedGoogle Scholar
• Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q, Wegner DJ, Cole FS, Hamvas A. 2014. Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. BMJ Open Respir Res. 1:e000057.
   PubMedGoogle Scholar
• Cottin V, Hirani NA, Hotchkin DL, Nambiar AM, Ogura T, Otaola M, Skowasch D, Park JS, Poonyagariyagorn HK, Wuyts W, et al. 2018. Presentation, diagnosis and clinical course of the spectrum of progressive-fibrosing interstitial lung diseases. Eur Respir Rev. 31:27.
   Google Scholar
• Devine MS, Garcia CK. 2012. Genetic interstitial lung disease. Clin Chest Med. 33:95–110.
   Web of Science ®Google Scholar
• du Bois RM. 2002. The genetic predisposition to interstitial lung disease: functional relevance. Chest. 121:14S–20S.
   Web of Science ®Google Scholar
• Guillot L, Nathan N, Tabary O, Thouvenin G, Le Rouzic P, Corvol H, Amselem S, Clement A. 2013. Alveolar epithelial cells: master regulators of lung homeostasis. Int J Biochem Cell Biol. 45:2568–2573.
   PubMed Web of Science ®Google Scholar
• Heinrich S, Hartl D, Griese M. 2006. Surfactant protein A–from genes to human lung diseases. Curr Med Chem. 13:3239–3252.
   Web of Science ®Google Scholar
• Kishore U, Greenhough TJ, Waters P, Shrive AK, Ghai R, Kamran MF, Bernal AL, Reid KB, Madan T, Chakraborty T. 2006. Surfactant proteins SP-A and SP-D: structure, function and receptors. Mol Immunol. 43:1293–1315.
   PubMed Web of Science ®Google Scholar
• Korfhagen TR, LeVine AM, Whitsett JA. 1998. Surfactant protein A (SP-A) gene targeted mice. Biochim Biophys Acta. 19(1408):296–302.
   Google Scholar
• Legendre M, Butt A, Borie R, Debray MP, Bouvry D, Filhol-Blin E, Desroziers T, Nau V, Copin B, Dastot-Le Moal F, et al. 2020. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer. Eur Respir J. 56(6):2002806.
   Web of Science ®Google Scholar
• Liu L, Luo H. 2018. Whole-Exome sequencing identified a novel compound heterozygous mutation of LRRC6 in a Chinese primary ciliary dyskinesia patient. Biomed Res Int. 2018:1854269.
   Web of Science ®Google Scholar
• Liu L, Qin J, Guo T, Chen P, Ouyang R, Peng H, Luo H. 2020. Identification and functional characterization of a novel surfactant protein A2 mutation (p.N207Y) in a Chinese family with idiopathic pulmonary fibrosis. Mol Genet Genomic Med. 8:e1393.
   Web of Science ®Google Scholar
• Madsen J, Tornoe I, Nielsen O, Koch C, Steinhilber W, Holmskov U. 2003. Expression and localization of lung surfactant protein A in human tissues. Am J Respir Cell Mol Biol 29:591–597.
   PubMed Web of Science ®Google Scholar
• Maitra M, Wang Y, Gerard RD, Mendelson CR, Garcia CK. 2010. Surfactant protein A2 mutations associated with pulmonary fibrosis lead to protein instability and endoplasmic reticulum stress. J Biol Chem. 16(285):22103–22113.
   Google Scholar
• McCormack FX, Whitsett JA. 2002. The pulmonary collectins, SP-A and SP-D, orchestrate innate immunity in the lung. J Clin Invest. 109:707–712.
   PubMed Web of Science ®Google Scholar
• Mikerov AN, Haque R, Gan X, Guo X, Phelps DS, Floros J. 2008. Ablation of SP-A has a negative impact on the susceptibility of mice to Klebsiella pneumoniae infection after ozone exposure: sex differences. Respir Res. 4(9):77.
   Google Scholar
• Newton CA, Molyneaux PL, Oldham JM. 2018. Clinical Genetics in interstitial lung disease. Front Med (Lausanne). 5:116.
   Web of Science ®Google Scholar
• Phelps DS, Umstead TM, Quintero OA, Yengo CM, Floros J. 2011. In vivo rescue of alveolar macrophages from SP-A knockout mice with exogenous SP-A nearly restores a wild type intracellular proteome; actin involvement. Proteome Sci. 28(9):67.
   Google Scholar
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17:405–424.
   PubMed Web of Science ®Google Scholar
• Song Y, Fang G, Shen H, Li H, Yang W, Pan B, Huang G, Lin G, Ma L, Willard B, et al. 2012. Human surfactant protein A2 gene mutations impair dimmer/trimer assembly leading to deficiency in protein sialylation and secretion. PLoS One. 7:e46559.
   Web of Science ®Google Scholar
• van Moorsel CH, Ten Klooster L, van Oosterhout MF, de Jong PA, Adams H, van Es H W, Ruven HJ, van der Vis JJ, Grutters JC. 2015. SFTPA2 mutations in familial and sporadic idiopathic interstitial pneumonia. Am J Respir Crit Care Med. 15(192):1249–1252.
   Google Scholar
• Wang Y, Kuan PJ, Xing C, Cronkhite JT, Torres F, Rosenblatt RL, DiMaio JM, Kinch LN, Grishin NV, Garcia CK. 2009. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am J Hum Genet. 84:52–59.
   PubMed Web of Science ®Google Scholar
• Wolters PJ, Collard HR, Jones KD. 2014. Pathogenesis of idiopathic pulmonary fibrosis. Annu Rev Pathol. 9:157–179.
   PubMed Web of Science ®Google Scholar
• Yang HY, Li H, Wang YG, Xu CY, Zhao YL, Ma XG, Li XW, Chen H. 2014. Correlation analysis between single nucleotide polymorphisms of pulmonary surfactant protein A gene and pulmonary tuberculosis in the Han population in China. Int J Infect Dis. 26:31–36.
   Web of Science ®Google Scholar