Marfan syndrome caused by a recurrent de novo missense mutation  in the fibrillin gene

Dietz, Harry C.; Cutting, Carry R.; Pyeritz, Reed E.; Maslen, Cheryl L.; Sakai, Lynn Y.; Corson, Glen M.; Puffenberger, Erik G.; Hamosh, Ada; Nanthakumar, Elizabeth; Curristin, Sheila M.; Stetten, Gail; Meyers, Deborah A.; Francomano, Clair A.

doi:10.1038/352337a0

Cited by 1,841 publications

(1,045 citation statements)

References 15 publications

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“…5 Over 600 FBN1 mutations have been reported. 6 Since fibrillin-1 is an important component of the extracellular matrix microfibril, 7,8 this protein was initially thought to play mainly a structural role in connective tissue.…”

Section: Etiology Of Marfan Syndromementioning

confidence: 99%

Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

Lacro

Dietz

Wruck

et al. 2007

American Heart Journal

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207

161

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Background-Cardiovascular pathology, including aortic root dilation, dissection, and rupture, is the leading cause of mortality in patients with Marfan syndrome (MFS). The maximal aortic root diameter at the sinuses of Valsalva is considered the best predictor of adverse cardiovascular outcome. Although advances in therapy have improved life expectancy, affected individuals continue to suffer cardiovascular morbidity and mortality. Recent studies in a FBN1-targeted mouse model of MFS with aortic pathology similar to that seen in humans showed that treatment with losartan normalized aortic root growth and aortic wall architecture.

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Section: Etiology Of Marfan Syndromementioning

confidence: 99%

Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

Lacro

Dietz

Wruck

et al. 2007

American Heart Journal

Self Cite

207

161

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“…Mutations in FBN1, the gene encoding fibrillin 1, a component of the microfibrillar network, have been found to cause Marfan syndrome. 35 Eye: Cambridge Ophthalmological Symposium…”

Section: Marfan Syndrome (Mim 154700)mentioning

confidence: 99%

Molecular genetics of rhegmatogenous retinal detachment

Richards

Scott

Snead

2002

Eye

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Rhegmatogenous retinal detachment (RRD) most commonly occurs as a spontaneous event resulting from posterior vitreous detachment, typically between the ages of 40-70 yrs. It is also a feature in some inherited disorders, most commonly Stickler syndrome. The relationship between these inherited disorders and the spontaneous cases is unclear. Here in particular we review Stickler syndrome, and discuss the differential diagnosis of Stickler, Wagner and Marshall syndromes. Other rare inherited disorders associated with RRD are also briefly reviewed.

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“…In general, little is known about the function of the elastin-associated glycoproteins, and all of them have been shown to have a wider distribution than that of elastin. However, the identification of genetic diseases affecting the elastic properties of tissues based on alteration of the genes for the elastin-associated glycoproteins (Dietz et al, 1991;Lee et al, 1991) suggests an important role for these components in elastic functions. The study of the distribution of elastin and associated glycoproteins in elastogenic models should be of great interest and should help to clarify their functions.…”

Section: Introductionmentioning

confidence: 99%

Elastic extracellular matrix of the embryonic chick heart: An immunohistological study using laser confocal microscopy

Hurlé

Kitten

Sakai

et al. 1994

Developmental Dynamics

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The "elastic matrix" constitutes a specialized component of the extracellular matrix which confers resiliency to tissues and organs subjected to repeated deformations. The role of the elastic matrix in living organisms appears to be of key importance since diseases characterized by expression of defective inherited genes which encode components of the elastic matrix lead to premature death. While the elastic matrix of adult organs has received a great deal of attention, little is known about when it first appears in embryonic tissues or its possible role in developing organs. In the present study we have performed an immunohistochemical study of the distribution of elastin and three additional components often associated with elastic matrices in adult tissues (i.e., fibrillin, emilin, and type VI collagen) during the development of the chicken embryonic heart. The threedimensional arrangement of these components was established through the observation of wholemount specimens with scanning laser confocal microscopy. Our results revealed three different periods of heart development regarding the composition of the elastic matrix. Prior to stage 21 the embryonic heart lacks elastin but exhibits a matrix scaffold of fibrillin and emilin associated with the endocardium and the developing cardiac jelly. Between stages 22 and 29 the heart shows a transient elastic scaffold in the outflow tract which contains elastin, fibrillin, and emilin. Elastin-positive fibrillar material is also observed during these stages in the base of the atrioventricular cushion adjacent to the myocardial wall. In addition, emilin-positive material appears to be associated with the zones of formation of ventricular trabeculae. Collagen type VI was not detected during these early stages. From stage 30 to stage 40 a progressive modification of the pattern of distribution of elastin, fibrillin, emilin, and collagen type VI is observed in association with the formation of the definitive four-chambered heart. The distribution of the elastic scaffold in the outflow tract appears to be rearranged and becomes restricted to the roots of the main arteries. Each of the components studied here is also deposited at increasing levels in the developing valvular appa-ratus including the valve leaflets and the chordae tendinea. The components are also present in the subendocardial space where they form aligned fibrillar tracts, an arrangement suggestive of a role in ventricular contractile function. The epicardium constitutes an additional region of elastic matrix deposition during these later stages and contains elastic, fibrillin, and collagen type VI. Finally, during the later stages the intramyocardial matrix (''myocardial interstitium") is formed and characterized by an abundance of collagen type VI, emilin, and fibrillin but lacks elastin-positive material. This study suggests that during cardiac development there is not a fixed composition of the so-called "elastic matrix.'' Rather, combinations of the different components of the elastic matrice...

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Cited by 1,841 publications

References 15 publications

Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

Rationale and design of a randomized clinical trial of β-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome

Molecular genetics of rhegmatogenous retinal detachment

Elastic extracellular matrix of the embryonic chick heart: An immunohistological study using laser confocal microscopy

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