Loeys-Dietz Syndrome

被引：25

作者：

Velchev, Joe D. ^{[1
]}

Van Laer, Lut ^{[1
]}

Luyckx, Ilse ^{[1
]}

Dietz, Harry ^{[3
]}

Loeys, Bart ^{[1
,2
]}

机构：

[1] Univ Antwerp, Antwerp Univ Hosp, Ctr Med Genet, Antwerp, Belgium

[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[3] Johns Hopkins Univ, Sch Med, Harry Dietz McKusick Nathans Inst Genet Med, Baltimore, MD USA

来源：

PROGRESS IN HERITABLE SOFT CONNECTIVE TISSUE DISEASES, 2ND EDITION | 2021年 / 1348卷

关键词：

Loeys-Dietz syndrome; Hypertelorism; Bifid uvula/cleft palate; Craniosynostosis; Dilatation of aortic root; Aortic aneurysm with tortuosity; Aortic dissection; Mutations in TGFBR1; TGFBR2; SMAD3 or TGFB2; Increased TGF ss signalling; Overlap with Marfan and Ehlers-Danlos syndrome; Pectus excavatum or pectus carinatum; Scoliosis; Joint laxity; Arachnodactyly; Talipes equinovarus; Cervical spine malformation; Spondylolisthesis; Acetabular protrusion; Pes planus; Osteoporosis; Retrognathia; Strabismus; Blue sclerae; Myopia; Amblyopia; Translucent skin; Easy bruising; Dystrophic scars; Spontaneous bowel rupture; Peripartal uterine rupture; Aneurysm; osteoarthritis syndrome; Mutations in SKI; Shprintzen-Goldberg syndrome; Cutis laxa; Familial thoracic aortic aneurysm; Mutations in ACTA2; MYH11 and MYLK; THORACIC AORTIC-ANEURYSMS; EHLERS-DANLOS-SYNDROME; OF-FUNCTION MUTATIONS; MARFAN-SYNDROME; ROOT DILATION; TGFBR2; MUTATIONS; LOSARTAN; GENE; FORM; TRIAL;

D O I：

10.1007/978-3-030-80614-9_11

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, SMAD2, SMAD3, TGFB2 and TGFB3. 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：251 / 264

页数：14

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