Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV)

Published on Dec 1, 2014in Genetics in Medicine8.683
· DOI :10.1038/gim.2014.72
Melanie G. Pepin23
Estimated H-index: 23
(UW: University of Washington),
Ulrike Schwarze30
Estimated H-index: 30
(UW: University of Washington)
+ 3 AuthorsPeter H. Byers70
Estimated H-index: 70
(UW: University of Washington)
Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
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OBJECTIVE:To provide the collected evidence from all literature reports.BACKGROUND:Vascular Ehlers-Danlos syndrome (EDS) is a rare connective tissue disorder with serious hemorrhagic consequences. Most experience on treatment is based on case reports and small case series.METHOD:A systematic literature review was performed. PubMed and reference lists were scrutinized.RESULTS:A total of 231 patients were identified with no gender preponderance. Aneurysms were present in 40%, often multiple. In 33...
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#1Dru F. Leistritz (UW: University of Washington)H-Index: 10
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Purpose: To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos syndrome type IV, the vascular type. Methods: We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed the clinical and family histories and medical complications in 54 individuals from these families with COL3A1 null mutations. Results: Compared with individuals with missense or exon-skipping mutati...
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Osteogenesis imperfecta (OI) is a generalized disorder of connective tissue characterized by fragile bones and easy susceptibility to fracture. Most cases of OI are caused by mutations in type I collagen. We have identified and assembled structural mutations in type I collagen genes (COL1A1 and COL1A2, encoding the proα1(I) and proα2(I) chains, respectively) that result in OI. Quantitative defects causing type I OI were not included. Of these 832 independent mutations, 682 result in substitution...
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A missense mutation leading to the replacement of one Gly in the (Gly-Xaa-Yaa)n repeat of the collagen triple helix can cause a range of heritable connective tissue disorders that depend on the gene in which the mutation occurs. Osteogenesis imperfecta results from mutations in type I collagen, Ehlers-Danlos syndrome type IV from mutations in type III collagen, Alport syndrome from mutations in type IV collagen, and dystrophic epidermolysis bullosa from mutations in type VII collagen. The predic...
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Familial amniotic band sequence (ABS) is rare but has been reported in the offspring of mothers with connective tissue disorders. We present a family of two half-siblings with ABS who share the same biological father. Following a serious vascular event a de novo pathogenic variant in COL3A1 was detected in the father, confirming a diagnosis of vascular Ehlers-Danlos syndrome (vEDS). The same variant was found in both his ABS-affected children but not in his unaffected child. The amniotic membran...
#1Liz SageH-Index: 1
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Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare, syndromic, heritable condition with life-threatening complications that include aortic and arterial aneurysms, dissection, and rupture. This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement. Methods The vEDS Research Collaborative was established with an engagement award from the Patient-Centered Outcomes Research Institute to create a framework for a patient-researche...
#1Pierre Boutouyrie (University of Paris)H-Index: 4
Summary Vascular Ehlers-Danlos syndrome (OMIM 130050, 1/150 000 birth) is caused by mutations in Collagen 3A1 gene. It is associated with severe phenotype associating early arterial dissection and rupture, digestive and uterine perforations, and skin and joints fragility. Until recently, no treatment was available. Celiprolol, a beta1 antagonist with beta2 partial antagonist properties betablocker was tested in a randomized, controlled trial. We could show that this compound was associated with ...
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Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on g...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Peter H. Byers (UW: University of Washington)H-Index: 70
Last. Karen Woo (UCLA: University of California, Los Angeles)H-Index: 10
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Abstract Objective Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Methods This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The insti...
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Abstract Collagens and elastin are ‘building blocks’ of tissues and extracellular matrix. Mutations in these proteins cause severe congenital syndromes. Adverse genetic variations may accelerate the aging process in adults contributing to premature morbidity, disability and/or mortality. Favorable variants may contribute to longevity and/or healthy aging, but this is much less studied. We reviewed the association between variation in the genes of collagens and elastin and premature aging, accele...
#1Sherene Shalhub (UW: University of Washington)H-Index: 13
#2Liz Sage (UW: University of Washington)H-Index: 1
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Abstract Objective Patient centered research requires active engagement of patients. The Vascular Ehlers-Danlos Syndrome (vEDS) research collaborative was established to ascertain patient-centered vEDS research priorities and to engage affected individuals as research partners. Evaluation of access to information and interest in research among individuals with vEDS was the first step undertaken as part of this work. Methods A 28 question survey was created to evaluate four domains of interest: D...