|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is now well established that defects in fibrillin-1 (FBN1) cause the variable and pleiotropic features of Marfan syndrome (MFS) and, at the most severe end of its clinical spectrum, neonatal Marfan syndrome (nMFS).
|
8880577 |
1996 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations.Resource table.
|
30870686 |
2019 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Herein we report a patient with MFS and an atypical facial appearance and neuropsychiatric involvement likely not attributable to MFS due to a 15q21.1 deletion that involves part of FBN1 and 13 additional contiguous genes listed in OMIM.
|
27615407 |
2017 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although <i>FBN1</i> knockout (KO) or dominant-negative mutant mice are widely used as an animal model for Marfan syndrome (MFS), these mice cannot recapitulate the genotype/phenotype relationship of Marfanoid-progeroid-lipodystrophy (MPL) syndrome, which is caused by a mutation in the C-terminus of fibrillin-1, the penultimate exon of the <i>FBN1</i> gene.
|
29666143 |
2018 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Eleven FBN1 mutations were identified in 12 patients who strictly fulfilled the Ghent criteria for MFS, and 1 FBN1 mutations were detected in 9 patients with suspected MFS by screening the mutations of FBN1.
|
31279664 |
2019 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To allow a more uniform interpretation of variants in the <i>FBN1</i> (fibrillin-1) gene, causing Marfan syndrome, we tailored these guidelines to this gene and disease.
|
29875124 |
2018 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to investigate the correlation between fibrillin-1 frameshift mutations and the clinical phenotype in patients affected by MFS.
|
11453977 |
2001 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We evaluated data in four variant databases (HGMD, UMD-FBN1, ClinVar, and UniProt) according to the diagnostic criteria for MFS and compared the results with the classification of each variant in the four databases.
|
25812041 |
2016 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities.
|
9401003 |
1997 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MFS type1 (MFS1) is caused by mutations in the gene encoding fibrillin (FBN1).
|
16799921 |
2006 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One additional patient was found to have an FBN1 mutation previously reported in classical MFS.
|
22736615 |
2012 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Each of the many different mutations in FBN1 known to cause MFS must lead to similar clinical features through common mechanisms, proceeding principally through the activation of TGFβ signaling.
|
22242013 |
2012 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There was a large spectrum of severity of the disease in probands carrying two mutated FBN1 alleles, but none of them presented extremely severe manifestations of MFS in any system compared with carriers of only one mutated FBN1 allele.
|
27582083 |
2017 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report here the largest known de novo and out of frame deletion in the fibrillin-1 gene in a patient fulfilling the diagnostic criteria of Marfan syndrome.
|
17189636 |
2007 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We show that substitutions in fibrillin-1 domains TB4 and TB5 that cause SSS and the acromelic dysplasias do not prevent fibrillin-1 from being secreted or assembled into microfibrils, whereas MFS-associated substitutions in these domains result in a loss of recombinant protein in the culture medium and no association with microfibrils.
|
25979247 |
2015 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of neonatal MFS came forward and genetic studies revealed a de novo mutation in the fibrillin 1 (FBN1) gene.
|
24928929 |
2014 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.
|
19353630 |
2009 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The MFS is caused by mutations in FBN1, while CCA has been genetically linked to FBN2 (refs 2, 5, 6).
|
7493032 |
1995 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling.
|
28925368 |
2017 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibrillin-1 gene (FBN1) cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue with highly variable clinical manifestations.
|
11071382 |
2000 |
|
Marfan Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
For this purpose, we employed the Fbn1 under-expressing mgR/mgR mouse model of MFS.
|
30677223 |
2019 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two patients had pathogenic SMAD3 nonsense mutations consistent with type-III Loeys-Dietz syndrome and one patient had a pathogenic FBN1 mutation with subsequent confirmation of Marfan syndrome.
|
26333736 |
2015 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, extensive mutation screening in many laboratories has detected FBN1 mutations in only a fraction of MFS probands studied, leading to the hypothesis that the missing mutations could involve another microfibril gene located in the same region.
|
9150721 |
1997 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ectopia lentis, familial aortic aneurysm, and Marfan-like skeletal abnormalities, so that Marfan syndrome may be regarded as one of a range of type 1 fibrillinopathies.
|
10633129 |
2000 |
|
Marfan Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlation may contribute to anticipate the clinical consequences of specific FBN1 mutations more comprehensively and may be helpful to identify MFS patients at risk at on early stage of disease.
|
16342915 |
2005 |