Loeys-Dietz Syndrome

被引：94

作者：

Van Laer, Lut ^{[1
]}

Dietz, Harry ^{[2
]}

Loeys, Bart ^{[1
]}

机构：

[1] Univ Antwerp, Antwerp Univ Hosp, Fac Med & Hlth Sci, Ctr Med Genet, B-2650 Antwerp, Belgium

[2] Johns Hopkins Univ, Sch Med, McKusick Nahtans Inst Genet Med, Baltimore, MD USA

来源：

PROGRESS IN HERITABLE SOFT CONNECTIVE TISSUE DISEASES | 2014年 / 802卷

关键词：

Loeys-Dietz syndrome; Hypertelorism; Aortic aneurysm with tortuosity; Aortic dissection; Mutations in TGFBR1; TGFBR2; SMAD3 or TGFB2; Increased TGF beta signalling; Overlap with Marfan and Ehlers-Danlos syndrome; THORACIC AORTIC-ANEURYSM; EHLERS-DANLOS-SYNDROME; TGF-BETA RECEPTOR; MARFAN-SYNDROME; OSTEOARTHRITIS SYNDROME; ROOT DILATION; CUTIS LAXA; MUTATIONS; DISSECTIONS; LOSARTAN;

D O I：

10.1007/978-94-007-7893-1_7

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGF beta) signalling pathway: TGFBR1, TGFBR2, SMAD3 and TGFB2. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGF beta signalling. These insights offer new options for therapeutic interventions.

引用

页码：95 / 105

页数：11

共 50 条

[1] Aortic decision-making in the Loeys-Dietz syndrome: Aortic root aneurysm and a normal-caliber ascending aorta and aortic arch [J].

Augoustides, John G. T. ;

Plappert, Ted ;

Bavaria, Joseph E. .

JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, 2009, 138 (02) :502-503

[2]

Beighton P, 1998, AM J MED GENET, V77, P31, DOI 10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO

[3]

2-O

[4] Angiotensin II blockade and aortic-root dilation in Marfan's syndrome [J].

Brooke, Benjamin S. ;

Habashi, Jennifer P. ;

Judge, Daniel P. ;

Patel, Nishant ;

Loeys, Bart ;

Dietz, Harry C., III .

NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (26) :2787-2795

[5] TGFBR2 Deletion in a 20-Month-Old Female With Developmental Delay and Microcephaly [J].

Campbell, Ian M. ;

Kolodziejska, Katarzyna E. ;

Quach, Michael M. ;

Wolf, Varina Louise ;

Cheung, Sau Wai ;

Lalani, Seema R. ;

Ramocki, Melissa B. ;

Stankiewicz, Pawel .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (06) :1442-1447

[6] TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating [J].

Cardoso, Sarah ;

Robertson, Stephen P. ;

Daniel, Philip B. .

JOURNAL OF RECEPTORS AND SIGNAL TRANSDUCTION, 2012, 32 (03) :150-155

[7] Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome [J].

Coucke, PJ ;

Willaert, A ;

Wessels, MW ;

Callewaert, B ;

Zoppi, N ;

De Backer, J ;

Fox, JE ;

Mancini, GMS ;

Kambouris, M ;

Gardella, R ;

Facchetti, F ;

Willems, PJ ;

Forsyth, R ;

Dietz, HC ;

Barlati, S ;

Colombi, M ;

Loeys, B ;

De Paepe, A .

NATURE GENETICS, 2006, 38 (04) :452-457

[8] Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome [J].

Detaint, Delphine ;

Aegerter, Philippe ;

Tubach, Florence ;

Hoffman, Isabelle ;

Plauchu, Henri ;

Dulac, Yves ;

Faivre, Laurence Olivier ;

Delrue, Marie-Ange ;

Collignon, Patrick ;

Odent, Sylvie ;

Tchitchinadze, Maria ;

Bouffard, Catherine ;

Arnoult, Florence ;

Gautier, Mathieu ;

Boileau, Catherine ;

Jondeau, Guillaume .

ARCHIVES OF CARDIOVASCULAR DISEASES, 2010, 103 (05) :317-325

[9] Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm [J].

Doyle, Alexander J. ;

Doyle, Jefferson J. ;

Bessling, Seneca L. ;

Maragh, Samantha ;

Lindsay, Mark E. ;

Schepers, Dorien ;

Gillis, Elisabeth ;

Mortier, Geert ;

Homfray, Tessa ;

Sauls, Kimberly ;

Norris, Russell A. ;

Huso, Nicholas D. ;

Leahy, Dan ;

Mohr, David W. ;

Caulfield, Mark J. ;

Scott, Alan F. ;

Destree, Anne ;

Hennekam, Raoul C. ;

Arn, Pamela H. ;

Curry, Cynthia J. ;

Van Laer, Lut ;

McCallion, Andrew S. ;

Loeys, Bart L. ;

Dietz, Harry C. .

NATURE GENETICS, 2012, 44 (11) :1249-1254

[10] Impaired Systolic Function in Loeys-Dietz Syndrome A Novel Cardiomyopathy? [J].

Eckman, Peter M. ;

Hsich, Eileen ;

Rodriguez, Rene ;

Gonzalez-Stawinski, Gonzalo V. ;

Moran, Rocio ;

Taylor, David O. .

CIRCULATION-HEART FAILURE, 2009, 2 (06) :707-708

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