BMPR2 Germline Mutation in Chronic Thromboembolic Pulmonary Hypertension

被引：14

作者：

Feng, Yu-Xuan ^{[1
]}

Liu, Dong ^{[2
]}

Sun, Ming-Li ^{[2
]}

Jiang, Xin ^{[3
,4
]}

Sun, Na ^{[2
]}

Mao, Yi-Min ^{[1
]}

Jing, Zhi-Cheng ^{[3
,4
]}

机构：

[1] Henan Univ Sci & Technol, Affiliated Hosp 1, Dept Resp Med, Luoyang, Peoples R China

[2] Tongji Univ, Sch Med, Shanghai Pulm Hosp, Dept Cardiopulm Circulat, Shanghai 200433, Peoples R China

[3] Chinese Acad Med Sci, Natl Ctr Cardiovasc Dis, Fu Wai Hosp, State Key Lab Cardiovasc Dis, Beijing 100037, Peoples R China

[4] Peking Union Med Coll, Beijing 100037, Peoples R China

来源：

LUNG | 2014年 / 192卷 / 04期

关键词：

Bone morphogenetic protein receptor 2; Gene mutation; Chronic thromboembolic pulmonary hypertension; ARTERIAL-HYPERTENSION; DISEASE;

D O I：

10.1007/s00408-014-9580-y

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension. BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease. In this study we identified a missense mutation (c.2296A > G) located in BMPR2 exon 12 in a patient with chronic thromboembolic pulmonary hypertension (CTEPH). It is the first report of a BMPR2 mutation in CTEPH. Our study provides innovative insight into etiology of CTEPH. The genetic predisposing factor is an important component in the process of this CTEPH patient.

引用

页码：625 / 627

页数：3

共 10 条

[1] Chronic thromboembolic pulmonary hypertension [J].

Hoeper, MM ;

Mayer, E ;

Simonneau, G ;

Rubin, LJ .

CIRCULATION, 2006, 113 (16) :2011-2020

[2] BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives [J].

Humbert, M ;

Deng, Z ;

Simonneau, G ;

Barst, RJ ;

Sitbon, O ;

Wolf, M ;

Cuervo, N ;

Moore, KJ ;

Hodge, SE ;

Knowles, JA ;

Morse, JH .

EUROPEAN RESPIRATORY JOURNAL, 2002, 20 (03) :518-523

[3]

Joy C, 2012, CIRCULATION, V126, P1907

[4] Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients [J].

Liu, D. ;

Liu, Q-Q. ;

Eyries, M. ;

Wu, W-H. ;

Yuan, P. ;

Zhang, R. ;

Soubrier, F. ;

Jing, Z-C. .

EUROPEAN RESPIRATORY JOURNAL, 2012, 39 (03) :597-603

[5] Incidence of chronic thromboembolic pulmonary hypertension after pulmonary embolism [J].

Pengo, V ;

Lensing, AWA ;

Prins, MH ;

Marchiori, A ;

Davidson, BL ;

Tiozzo, F ;

Albanese, P ;

Biasiolo, A ;

Pegoraro, C ;

Iliceto, S ;

Prandoni, P ;

Razzolini, R ;

Ramondo, A ;

Bellotto, F ;

Noventa, F ;

Villanova, C ;

Barbero, F ;

Casara, D ;

Nante, G ;

Tormene, D ;

Gerosa, G ;

Testolin, L ;

Bottio, T ;

Piovella, F ;

Vigano, M ;

D'Armini, A .

NEW ENGLAND JOURNAL OF MEDICINE, 2004, 350 (22) :2257-2264

[6]

Rajiv DM, 2003, HUM MOL GENET, V24, P3277

[7] LONGTERM FOLLOW-UP OF PATIENTS WITH PULMONARY THROMBOEMBOLISM - LATE PROGNOSIS AND EVOLUTION OF HEMODYNAMIC AND RESPIRATORY DATA [J].

RIEDEL, M ;

STANEK, V ;

WIDIMSKY, J ;

PREROVSKY, I .

CHEST, 1982, 81 (02) :151-158

[8] BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease [J].

Roberts, KE ;

McElroy, JJ ;

Wong, WPK ;

Yen, E ;

Widlitz, A ;

Barst, RJ ;

Knowles, JA ;

Morse, JH .

EUROPEAN RESPIRATORY JOURNAL, 2004, 24 (03) :371-374

[9] Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II [J].

Runo, JR ;

Vnencak-Jones, CL ;

Prince, M ;

Loyd, JE ;

Wheeler, L ;

Robbins, IM ;

Lane, KB ;

Newman, JH ;

Johnson, J ;

Nichols, WC ;

Phillips, JA .

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2003, 167 (06) :889-894

[10] Dysfunctional smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension [J].

Yang, XD ;

Long, L ;

Southwood, M ;

Rudarakanchana, N ;

Upton, PD ;

Jeffery, TK ;

Atkinson, C ;

Chen, HL ;

Trembath, RC ;

Morrell, NW .

CIRCULATION RESEARCH, 2005, 96 (10) :1053-1063

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