Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension

References

• Ader F, De Groote P, Réant P,  Réant P, Rooryck-Thambo C, Dupin-Deguine D, Rambaud C, Khraiche D, Perret C, Pruny JF, Mathieu-Dramard M, Gérard M, Troadec Y, Gouya L, Jeunemaitre X, Van Maldergem L, Hagège A, Villard E, Charron P, Richard P. 2019. FLNC pathogenic variants in patients with cardiomyopathies: prevalence and genotype-phenotype correlations. Clin Genet. 96(4):317–329.
   Web of Science ®Google Scholar
• Andruska A, Spiekerkoetter E. 2018. Consequences of bmpr2 deficiency in the pulmonary vasculature and beyond: contributions to pulmonary arterial hypertension. Int J Mol Sci. 19:2499.
   Web of Science ®Google Scholar
• Baloira Villar A, Pousada Fernández G, Núñez Fernández M, et al. 2015. Clinical and molecular study of 4 cases of pulmonary hypertension associated with sarcoidosis. Arch de Bronconeumol. 51:E19–E21.
   Google Scholar
• Bao J, Shi Y, Tao M, et al. 2018. Pharmacological inhibition of autophagy by 3-MA attenuates hyperuricemic nephropathy. Clin Sci (Lond). 132:2299–2322.
   PubMed Web of Science ®Google Scholar
• Bruggen CE, Happé CM, Dorfmüller P, et al. 2016. Bone morphogenetic protein receptor type 2 mutation in pulmonary arterial hypertension: a view on the right ventricle. Circulation. 133:1747–1760.
   Web of Science ®Google Scholar
• Brun F, Barnes CV, Sinagra G, et al. 2014. Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. J Med Genet. 51(10):669–676.
   Web of Science ®Google Scholar
• Chauveau C, Rowell J, Ferreiro A. 2014. A rising titan: TTN review and mutation update. Hum Mutat. 35(9):1046–1059.
   PubMed Web of Science ®Google Scholar
• Cogan JD, Pauciulo MW, Batchman AP, et al. 2006. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med. 174:590–598.
   PubMed Web of Science ®Google Scholar
• Deng Z, Morse JH, Slager SL, et al. 2000. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 67:737–744.
   PubMed Web of Science ®Google Scholar
• Dodson MW, Brown LM, Elliott CG. 2018. Pulmonary arterial hypertension. Heart Fail Clin. 14:255–269.
   PubMed Web of Science ®Google Scholar
• Evans JD, Girerd B, Montani D, et al. 2016. BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis. Lancet Respir Med. 4:129–137.
   PubMed Web of Science ®Google Scholar
• Ghigna MR, Guignabert C, Montani D, et al. 2016. BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension. Eur Respir J. 48:1668–1681.
   PubMed Web of Science ®Google Scholar
• Girerd B, Montani D, Eyries M, et al. 2010. Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension. Respir Res. 11:73.
   PubMed Web of Science ®Google Scholar
• Gordeuk VR, Castro OL, Machado RF. 2016. Pathophysiology and treatment of pulmonary hypertension in sickle cell disease. Blood. 127:820–828.
   PubMed Web of Science ®Google Scholar
• Hayes DJ, Ramanathan C, Kopp BT. 2014. The BMPR2 missense mutation p.K230N and pulmonary arterial hypertension. Pediatr Pulm. 49:E5–E6.
   Web of Science ®Google Scholar
• Hiepen C, Jatzlau J, Hildebrandt S, et al. 2019. BMPR2 acts as a gatekeeper to protect endothelial cells from increased TGFβ responses and altered cell mechanics. PLoS Biol. 17:e3000557.
   PubMed Web of Science ®Google Scholar
• Hollowell JG, Staehling NW, Flanders WD, et al. 2002. Serum TSH, T(4), and thyroid antibodies in the United States population (1988 to 1994): national health and nutrition examination survey (NHANES III). J Clin Endocrinol Metab. 87:489–499.
   PubMed Web of Science ®Google Scholar
• Husseini A, Bagnato G, Farkas L, et al. 2013. Thyroid hormone is highly permissive in angioproliferative pulmonary hypertension in rats. Eur Respir J. 41:104–114.
   Web of Science ®Google Scholar
• Jabbar A, Pingitore A, Pearce SH, et al. 2017. Thyroid hormones and cardiovascular disease. Nat Rev Cardiol. 14:39–55.
   PubMed Web of Science ®Google Scholar
• Kabata H, Satoh T, Kataoka M, et al. 2013. Bone morphogenetic protein receptor type 2 mutations, clinical phenotypes and outcomes of Japanese patients with sporadic or familial pulmonary hypertension. Respirology. 18:1076–1082.
   PubMed Web of Science ®Google Scholar
• Kataoka M, Aimi Y, Yanagisawa R, et al. 2013. Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension. Genet Med. 15:941–947.
   Web of Science ®Google Scholar
• Khosla UM, Zharikov S, Finch JL, et al. 2005. Hyperuricemia induces endothelial dysfunction. Kidney Int. 67:1739–1742.
   PubMed Web of Science ®Google Scholar
• Ma L, Chung WK. 2017. The role of genetics in pulmonary arterial hypertension. The J Pathol. 241:273–280.
   Web of Science ®Google Scholar
• Machado RD, Aldred MA, James V, et al. 2006. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 27:121–132.
   PubMed Web of Science ®Google Scholar
• Machado RD, Pauciulo MW, Thomson JR, et al. 2001. BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet. 68:92–102.
   PubMed Web of Science ®Google Scholar
• Machado RD, Southgate L, Eichstaedt CA, et al. 2015. Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Hum Mutat. 36:1113–1127.
   PubMed Web of Science ®Google Scholar
• Momose Y, Aimi Y, Hirayama T, et al. 2015. De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension. Ann Hum Genet. 79:85–91.
   Web of Science ®Google Scholar
• Montani D, Günther S, Dorfmüller P, et al. 2013. Pulmonary arterial hypertension. Orphanet J Rare Dis. 8:97.
   PubMed Web of Science ®Google Scholar
• Morisaki H, Nakanishi N, Kyotani S. 2004. BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat. 23:632.
   Web of Science ®Google Scholar
• Morrell NW, Aldred MA, Chung WK, et al. 2019. Genetics and genomics of pulmonary arterial hypertension. Eur Respir J. 53:1801899.
   Google Scholar
• Peacock AJ, Murphy NF, McMurray JJV, et al. 2007. An epidemiological study of pulmonary arterial hypertension. Eur Respir J. 30:104–109.
   PubMed Web of Science ®Google Scholar
• Pfarr N, Szamalek-Hoegel J, Fischer C, et al. 2011. Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations. Respir Res. 12:99.
   Web of Science ®Google Scholar
• Richter MJ, Sommer N, Schermuly R, et al. 2016. The prognostic impact of thyroid function in pulmonary hypertension. J Heart Lung Transplant. 35:1427–1434.
   PubMed Web of Science ®Google Scholar
• Sánchez-Duffhues G, García de Vinuesa A, van de Pol V, et al. 2019. Inflammation induces endothelial-to-mesenchymal transition and promotes vascular calcification through downregulation of BMPR2. J Pathol. 247:333–346.
   PubMed Web of Science ®Google Scholar
• Taylor M, Graw S, Sinagra G, et al. 2011. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation. 124(8):876–885.
   PubMed Web of Science ®Google Scholar