A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections

被引：16

作者：

Fujita, Daishi ^{[1
]}

Takeda, Norifumi ^{[1
]}

Morita, Hiroyuki ^{[1
,2
]}

Kato, Masayoshi ^{[1
]}

Nishimura, Hiroshi ^{[1
]}

Inuzuka, Ryo ^{[3
]}

Taniguchi, Yuki ^{[4
]}

Nawata, Kan ^{[5
]}

Hyodo, Hironobu ^{[6
,7
]}

Imai, Yasushi ^{[8
]}

Hirata, Yasunobu ^{[9
]}

Komuro, Issei ^{[1
]}

机构：

[1] Tokyo Univ Hosp, Dept Cardiovasc Med, Bunkyo Ku, Tokyo 1138655, Japan

[2] Tokyo Univ Hosp, Dept Translat Res Healthcare & Clin Sci, Bunkyo Ku, Tokyo 1138655, Japan

[3] Tokyo Univ Hosp, Dept Pediat, Bunkyo Ku, Tokyo 1138655, Japan

[4] Tokyo Univ Hosp, Dept Orthoped Surg, Bunkyo Ku, Tokyo 1138655, Japan

[5] Tokyo Univ Hosp, Dept Cardiovasc Surg, Bunkyo Ku, Tokyo 1138655, Japan

[6] Tokyo Univ Hosp, Dept Obstet & Gynecol, Bunkyo Ku, Tokyo 1138655, Japan

[7] Tokyo Metropolitan Bokutoh Hosp, Dept Obstet & Gynecol, Tokyo, Japan

[8] Jichi Med Univ, Div Cardiovasc Med, Shimotsuke, Tochigi 3290498, Japan

[9] Tokyo Teishin Hosp, Chiyoda Ku, Tokyo 1028798, Japan

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2015年 / 201卷

关键词：

Loeys-Dietz syndrome; Pregnancy; Thoracic aortic dissection; Subarachnoid hemorrhage; TGFBR2; AORTIC-ANEURYSMS; MARFAN-SYNDROME;

D O I：

10.1016/j.ijcard.2015.07.109

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：288 / 290

页数：3

共 11 条

[1]

DePaepe A, 1996, AM J MED GENET, V62, P417, DOI 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO

[2]

2-R

[3] A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees [J].

Imai, Yasushi ;

Morita, Hiroyuki ;

Takeda, Norifumi ;

Miya, Fuyuki ;

Hyodo, Hironobu ;

Fujita, Daishi ;

Tajima, Tomoyuki ;

Tsunoda, Tatsuhiko ;

Nagai, Ryozo ;

Kubo, Michiaki ;

Komuro, Issei .

INTERNATIONAL JOURNAL OF CARDIOLOGY, 2015, 195 :290-292

[4] Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm [J].

Lindsay, Mark E. ;

Schepers, Dorien ;

Bolar, Nikhita Ajit ;

Doyle, Jefferson J. ;

Gallo, Elena ;

Fert-Bober, Justyna ;

Kempers, Marlies J. E. ;

Fishman, Elliot K. ;

Chen, Yichun ;

Myers, Loretha ;

Bjeda, Djahita ;

Oswald, Gretchen ;

Elias, Abdallah F. ;

Levy, Howard P. ;

Anderlid, Britt-Marie ;

Yang, Margaret H. ;

Bongers, Ernie M. H. F. ;

Timmermans, Janneke ;

Braverman, Alan C. ;

Canham, Natalie ;

Mortier, Geert R. ;

Brunner, Han G. ;

Byers, Peter H. ;

Van Eyk, Jennifer ;

Van Laer, Lut ;

Dietz, Harry C. ;

Loeys, Bart L. .

NATURE GENETICS, 2012, 44 (08) :922-+

[5] Aneurysm syndromes caused by mutations in the TGF-β receptor [J].

Loeys, Bart L. ;

Schwarze, Ulrike ;

Holm, Tammy ;

Callewaert, Bert L. ;

Thomas, George H. ;

Pannu, Hariyadarshi ;

De Backer, Julie F. ;

Oswald, Gretchen L. ;

Symoens, Sofie ;

Manouvrier, Sylvie ;

Roberts, Amy E. ;

Faravelli, Francesca ;

Greco, M. Alba ;

Pyeritz, Reed E. ;

Milewicz, Dianna M. ;

Coucke, Paul J. ;

Cameron, Duke E. ;

Braverman, Alan C. ;

Byers, Peter H. ;

De Paepe, Anne M. ;

Dietz, Harry C. .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (08) :788-798

[6] A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 [J].

Loeys, BL ;

Chen, JJ ;

Neptune, ER ;

Judge, DP ;

Podowski, M ;

Holm, T ;

Meyers, J ;

Leitch, CC ;

Katsanis, N ;

Sharifi, N ;

Xu, FL ;

Myers, LA ;

Spevak, PJ ;

Cameron, DE ;

De Backer, J ;

Hellemans, J ;

Chen, Y ;

Davis, EC ;

Webb, CL ;

Kress, W ;

Coucke, P ;

Rifkin, DB ;

De Paepe, AM ;

Dietz, HC .

NATURE GENETICS, 2005, 37 (03) :275-281

[7] Loeys-Dietz syndrome: a primer for diagnosis and management [J].

MacCarrick, Gretchen ;

Black, James H., III ;

Bowdin, Sarah ;

El-Hamamsy, Ismail ;

Frischmeyer-Guerrerio, Pamela A. ;

Guerrerio, Anthony L. ;

Sponseller, Paul D. ;

Loeys, Bart ;

Dietz, Harry C., III .

GENETICS IN MEDICINE, 2014, 16 (08) :576-587

[8] Heterozygous TGFBR2 mutations in Marfan syndrome [J].

Mizuguchi, T ;

Collod-Beroud, G ;

Akiyama, T ;

Abifadel, M ;

Harada, N ;

Morisaki, T ;

Allard, D ;

Varret, M ;

Claustres, M ;

Morisaki, H ;

Ihara, M ;

Kinoshita, A ;

Yoshiura, K ;

Junien, C ;

Kajii, T ;

Jondeau, G ;

Ohta, T ;

Kishino, T ;

Furukawa, Y ;

Nakamura, Y ;

Niikawa, N ;

Boileau, C ;

Matsumoto, N .

NATURE GENETICS, 2004, 36 (08) :855-860

[9] Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1 [J].

Rodrigues, V. J. ;

Elsayed, S. ;

Loeys, B. L. ;

Dietz, H. C. ;

Yousem, D. M. .

AMERICAN JOURNAL OF NEURORADIOLOGY, 2009, 30 (08) :1614-1619

[10] Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations [J].

Tran-Fadulu, V. ;

Pannu, H. ;

Kim, D. H. ;

Vick, G. W., III ;

Lonsford, C. M. ;

Lafont, A. L. ;

Boccalandro, C. ;

Smart, S. ;

Peterson, K. L. ;

Hain, J. Zenger ;

Willing, M. C. ;

Coselli, J. S. ;

LeMaire, S. A. ;

Ahn, C. ;

Byers, P. H. ;

Milewicz, D. M. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (09) :607-613

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