EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension

Chest - Tập 151 - Trang 821-828 - 2017
D. Hunter Best1,2,3, Kelli L. Sumner1, Benjamin P. Smith4,5, Kristy Damjanovich-Colmenares1, Ikue Nakayama4, Lynette M. Brown4,5, Youna Ha1, Eleri Paul1, Ashley Morris1, Mohamed A. Jama1, Mark W. Dodson4,5, Pinar Bayrak-Toydemir1,2, C. Gregory Elliott4,5
1ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT
2Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT
3Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT
4Department of Medicine, Intermountain Medical Center, Murray, UT
5Department of Internal Medicine, University of Utah, Salt Lake City, UT

Tài liệu tham khảo

Tuder, 2013, Relevant issues in the pathology and pathobiology of pulmonary hypertension, J Am Coll Cardiol, 62, D4, 10.1016/j.jacc.2013.10.025 Galie, 2015, Eur Respir J, 46, 903, 10.1183/13993003.01032-2015 Simonneau, 2009, Updated clinical classification of pulmonary hypertension, J Am Coll Cardiol, 54, S43, 10.1016/j.jacc.2009.04.012 Simonneau, 2013, Updated clinical classification of pulmonary hypertension, J Am Coll Cardiol, 62, D34, 10.1016/j.jacc.2013.10.029 Bedsole, 2005, Pulmonary capillary hemangiomatosis: a consideration in unexplained pulmonary hypertension, Chest, 128, 460S, 10.1378/chest.128.4_MeetingAbstracts.460S Eltorky, 1994, Pulmonary capillary hemangiomatosis: a clinicopathologic review, Ann Thorac Surg, 57, 772, 10.1016/0003-4975(94)90595-9 Montani, 2009, Pulmonary veno-occlusive disease, Eur Respir J, 33, 189, 10.1183/09031936.00090608 Humbert, 1998, Pulmonary edema complicating continuous intravenous prostacyclin in pulmonary capillary hemangiomatosis, Am J Respir Crit Care Med, 157, 1681, 10.1164/ajrccm.157.5.9708065 Palmer, 1998, Massive pulmonary edema and death after prostacyclin infusion in a patient with pulmonary veno-occlusive disease, Chest, 113, 237, 10.1378/chest.113.1.237 Best, 2014, EIF2AK4 mutations in pulmonary capillary hemangiomatosis, Chest, 145, 231, 10.1378/chest.13-2366 Eyries, 2014, EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension, Nat Genet, 46, 65, 10.1038/ng.2844 Hoeper, 2013, Definitions and diagnosis of pulmonary hypertension, J Am Coll Cardiol, 62, D42, 10.1016/j.jacc.2013.10.032 Morisaki, 2004, BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension, Hum Mutat, 23, 632, 10.1002/humu.9251 Deng, 2000, Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene, Am J Hum Genet, 67, 737, 10.1086/303059 Thomson, 2000, Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family, J Med Genet, 37, 741, 10.1136/jmg.37.10.741 Cogan, 2006, High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension, Am J Respir Crit Care Med, 174, 590, 10.1164/rccm.200602-165OC Rosenzweig, 2008, Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension, J Heart Lung Transplant, 27, 668, 10.1016/j.healun.2008.02.009 Damjanovich, 2011, 5′UTR mutations of ENG cause hereditary hemorrhagic telangiectasia, Orphanet J Rare Dis, 6, 85, 10.1186/1750-1172-6-85 Sumner KL. ENG database. http://www.arup.utah.edu/database/ENG/ENG_welcome.php. Accessed February 19, 2016. Sumner KL. BMPR2 database, 2016. http://www.arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php. Accessed February 19, 2016. Sumner KL. ACVRL1 database, 2016. http://www.arup.utah.edu/database/ACVRL1/ACVRL1_welcome.php. Accessed February 19, 2016. Consortium EA, Lek M, Karczewski K, et al. Analysis of protein-coding genetic variation in 60,706 humans, 2015. http://biorxiv.org/content/early/2015/10/30/030338.full.pdf+html. Accessed February 19, 2016. Team, 2016 Machado, 2015, Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects, Hum Mutat, 36, 1113, 10.1002/humu.22904 Soubrier, 2013, Genetics and genomics of pulmonary arterial hypertension, J Am Coll Cardiol, 62, D13, 10.1016/j.jacc.2013.10.035 Elliott, 1988, Pulmonary veno-occlusive disease associated with severe reduction of single-breath carbon monoxide diffusing capacity, Respiration, 53, 262, 10.1159/000195438 Lawler, 2005, Pulmonary capillary hemangiomatosis: multidetector row CT findings and clinico-pathologic correlation, J Thorac Imaging, 20, 61, 10.1097/01.rti.0000139390.26138.94 Dufour, 1998, High-resolution CT of the chest in four patients with pulmonary capillary hemangiomatosis or pulmonary venoocclusive disease, AJR Am J Roentgenol, 171, 1321, 10.2214/ajr.171.5.9798872 Wang, 2009, Novel promoter and exon mutations of the BMPR2 gene in Chinese patients with pulmonary arterial hypertension, Eur J Human Genet, 17, 1063, 10.1038/ejhg.2009.3