scholarly journals Homozygosity for autosomal dominant Marfan syndrome.

1984 ◽  
Vol 21 (3) ◽  
pp. 173-177 ◽  
Author(s):  
J Chemke ◽  
R Nisani ◽  
A Feigl ◽  
R Garty ◽  
M Cooper ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant

Marfan Syndrome: Using genetic maps to lead the way to new diagnostics and treatments

2020 ◽  
Author(s):  
Ines Nannsen
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Genetic Maps ◽  
Diagnostic Tools ◽  
Chromosome 15 ◽  
Connective Tissues ◽  
Dna Mapping ◽  
Heritable Disorder ◽  
Biochemical Level ◽  
Compare And Contrast

Marfan Syndrome is a heritable disorder of connective tissue caused by a mutated extracellular matrix glycoprotein protein, affecting 1 in 5,000 people worldwide. This protein is responsible for support and elasticity meaning that people affected by this disorder manifest with weakened tendons, ligaments and other connective tissues. Patients exhibit a wide variety of symptoms including, scoliosis, abnormally slender digits, vision problems and enlarged blood vessels. Marfan’s follows an autosomal dominant pattern of inheritance and has a penetrance of 100%, meaning that anyone inheriting the gene will be affected by the disease. This study focuses on the developments in the field of DNA mapping and how these advancements have improved the diagnostic tools and treatments for this disease. After exploring the methodology of DNA mapping, the LOD scores for Marfan Syndrome are discussed and compared in order to conclude which chromosome carried the mutation; it was found that chromosome 15 carries. Additionally, the results compare and contrast different genetic markers and identifies a link between markers D15529 and D15545. Although this technology is fairly recent and has thus not been studied as extensively as traditional methods, the information gathered in this research illustrates the methodology of DNA mapping and how; by understanding the gene expression and mutation at a biochemical level, diagnostics and treatments for patients can be tailored specifically to the disease and not just management of the symptoms.

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

scholarly journals A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuping Niu ◽  
Sexin Huang ◽  
Zeyu Wang ◽  
Peiwen Xu ◽  
Lijuan Wang ◽  
...  
Keyword(s):  
Real Time ◽  
Marfan Syndrome ◽  
Quantitative Pcr ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Stop Codon ◽  
Main Pulmonary Artery ◽  
Left Ventricular ◽  
Occurrence Rate ◽  
Chinese Family

Abstract Background Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant in the FBN1 gene. This finding extended the variant spectrum of the FBN1 gene and will provide a solution for patients to bear healthy offspring by preimplantation genetic testing or prenatal diagnosis. Case presentation The patient was treated due to tachycardia during excitement in a hospital. Echocardiography showed dilatation of the ascending aorta and main pulmonary artery, mitral regurgitation (mild), tricuspid regurgitation (mild), and abnormal left ventricular filling. Electrocardiograph showed sinus rhythm. In addition, flutters of shadows in front of his eyes and vitreous opacity were present in the patient. Genomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated controls. Potential variants were screened out by next-generation sequencing and confirmed by MLPA & Sanger sequencing. Real-time fluorescence quantitative PCR (RT-qPCR) was performed to detect the relative mRNA quantitation in the patient. A heterozygous nonsense variant c.3217G > T of the FBN1 gene, which resulted in p. Glu1073Term, was identified in both patients. Only wild type bases were found in the cDNA sequence of the patient. Real-time fluorogenic quantitative PCR results showed that the relative expression level of FBN1 cDNA in the patient was only about 21% compared to that of normal individuals. This variant c.3217G > T of the FBN1 gene introduces a Stop codon in the cb-EGF12 domain. We speculated that a premature translational-termination codon (PTC) was located in the mRNA and the target mRNA was disintegrated through a process known as nonsense-mediated mRNA decay (NMD), which led to a significant decrease of the fibrillin-1 protein, eventually causing clinical symptoms in the patient. Conclusions In this study, we found a heterozygous c.3217G > T (p.Glu1073*) nonsense variant in the FBN1 gene, which eventually led to Marfan syndrome in a Chinese family.

scholarly journals Marfan Syndrome: A Case Report

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Rajendran Ganesh ◽  
Rajendran Vijayakumar ◽  
Haridoss Selvakumar
Keyword(s):  
Stainless Steel ◽  
Case Report ◽  
Connective Tissue ◽  
Blood Vessel ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
The Body ◽  
Tissue Protein ◽  
Fibrillin 1 ◽  
Systemic Disorder

Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries.

Aspekty diagnostyczne i terapeutyczne zespołu Marfana w wieku rozwojowym

2018 ◽  
Vol 22 (2) ◽  
Author(s):  
Małgorzata Ludzia ◽  
Ewa Smereczyńska-Wierzbicka ◽  
Bożena Werner
Keyword(s):  
Marfan Syndrome ◽  
Aortic Root ◽  
Matrix Protein ◽  
Autosomal Dominant ◽  
De Novo ◽  
Enzyme Inhibitor ◽  
Angiotensin Receptor Blockers ◽  
Extracellular Matrix Protein ◽  
Long Bone ◽  
De Novo Mutations

Marfan’s syndrome (MFS) is a systemic, autosomal dominant connective tissue disease. It is caused mainly by the mutations in the FBN1 gene and is connected with extracellular matrix protein fibrillin-1. The incidence is about 2-3 per 10 000. About 70-75% of cases are inherited in an autosomal dominant fashion and the remaining are de-novo mutations. The most common findings involve cardiovascular, ocular and skeletal systems. The cardinal manifestations typically involving MFS are aortic root aneurysm/dissection and ectopia lentis. The other common manifestations are mitral valve prolapse, proximal aortic aneurysm, dolichocephaly, pectus carinatum deformity, enophthalmos, scoliosis, long-bone overgrowth. The manifestation in neonatal Marfan syndrome, in contrast to classical Marfan syndrome, is a rapidly progressing multi-valvular cardiac disease. The death connected with congestive heart failure happens mainly within the first year of life. Prognostic factors for life expectancy of patients with Marfan syndrome depend on the type of the MFS and in classical MFS – depend on the rate of aortic root dilatation, which leads to dissection or rupture. Pharmacological management includes beta blockers, angiotensin receptor blockers and angiotensin converting enzyme inhibitor as a preventive treatment to slow aortic root dilation.

scholarly journals Simultaneous Occurrence of Duane Retraction Syndrome with Marfan Syndrome

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Mihir Kothari ◽  
Florence Manurung ◽  
Bhavesh Mithiya
Keyword(s):  
Case Report ◽  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Simultaneous Occurrence ◽  
Autosomal Dominant Disorder ◽  
First Case ◽  
Retraction Syndrome ◽  
Congenital Cranial Dysinnervation Disorder ◽  
Duane Retraction Syndrome

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, while Duane retraction syndrome (DRS) is a congenital cranial dysinnervation disorder (CCDD) which can be transmitted as autosomal dominant disorder in 5–10% of patients. In this paper, we present an 8-year-old girl who presented with left eye DRS and bilateral subluxation of the lens associated with MFS in absence of familial involvement. To our knowledge this is the first case report of DRS with MFS. The occurrence of these syndromes together is very rare and appears to be coincidental.

scholarly journals A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome

2015 ◽  
Vol 14 (2) ◽  
pp. 4125-4132 ◽  
Author(s):  
Y. Yin ◽  
X.-H. Liu ◽  
X.-H. Li ◽  
N. Fan ◽  
D.-F. Lei ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Chinese Family ◽  
Heterozygous Mutation

MARFAN SYNDROME AND PREGNANCY: CLINICAL IMPLICATIONS AND MANAGEMENT

2010 ◽  
Vol 21 (3) ◽  
pp. 225-241
Author(s):  
ARIADNA C GRIGORIU ◽  
JACK COLMAN ◽  
CANDICE K SILVERSIDES ◽  
RACHEL WALD ◽  
SAMUEL C SIU ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
De Novo ◽  
Connective Tissue Disorder ◽  
Multiple Organ ◽  
Clinical Implications ◽  
Organ Systems

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that affects multiple organ systems, primarily the cardiovascular, ocular and skeletal. It is the most common inherited condition affecting the heart and the aorta, occurring in 1:5000–1:9800 people. There is no ethnic or gender predisposition; 20 to 35% of cases arise fromde novomutations.

scholarly journals Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome

2015 ◽  
Vol 112 (45) ◽  
pp. 14012-14017 ◽  
Author(s):  
Lior Zilberberg ◽  
Colin K. L. Phoon ◽  
Ian Robertson ◽  
Branka Dabovic ◽  
Francesco Ramirez ◽  
...  
Keyword(s):  
Aortic Aneurysm ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Aortic Disease ◽  
Elastic Fibers ◽  
Thoracic Aneurysm ◽  
Tgfβ Signaling ◽  
Autosomal Dominant Disorder ◽  
Present Evidence ◽  
Fibrillin 1

Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue, caused by mutations of the microfibrillar protein fibrillin-1, that predisposes affected individuals to aortic aneurysm and rupture and is associated with increased TGFβ signaling. TGFβ is secreted from cells as a latent complex consisting of TGFβ, the TGFβ propeptide, and a molecule of latent TGFβ binding protein (LTBP). Improper extracellular localization of the latent complex can alter active TGFβ levels, and has been hypothesized as an explanation for enhanced TGFβ signaling observed in MFS. We previously reported the absence of LTBP-3 in matrices lacking fibrillin-1, suggesting that perturbed TGFβ signaling in MFS might be due to defective interaction of latent TGFβ complexes containing LTBP-3 with mutant fibrillin-1 microfibrils. To test this hypothesis, we genetically suppressed Ltbp3 expression in a mouse model of progressively severe MFS. Here, we present evidence that MFS mice lacking LTBP-3 have improved survival, essentially no aneurysms, reduced disruption and fragmentation of medial elastic fibers, and decreased Smad2/3 and Erk1/2 activation in their aortas. These data suggest that, in MFS, improper localization of latent TGFβ complexes composed of LTBP-3 and TGFβ contributes to aortic disease progression.

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