|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The FBN1 variant described herein confers an increased risk of both EL and RRD and can now be upgraded to 'pathogenic' ACMG status.
|
31527767 |
2020 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL.
|
31098894 |
2019 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in FBN1 in a Chinese family with inherited ectopia lentis by targeted NGS.
|
30552983 |
2019 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified 105 putative substrates of ASPH-mediated hydroxylation in the human proteome, of which two (fibrillin-1 and latent transforming growth factor beta binding protein-2) are associated with inherited ectopia lentis syndromes, and are essential for microfibril and ciliary zonule development.
|
30600741 |
2019 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Little is known about this protease or its connection to fibrillin microfibrils, whose major component, fibrillin-1, is genetically associated with ectopia lentis and alterations in height.
|
28176809 |
2017 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known.
|
28941062 |
2017 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Finally, we show that a low level of residual WT FBN1 mRNA accounts for a high risk of ectopia lentis and pectus abnormality and tends to increase the risk of aortic dilatation.
|
25652400 |
2015 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Early onset ectopia lentis due to a FBN1 mutation with non-penetrance.
|
25900864 |
2015 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that EL caused by mutations in FBN1 is actually part of a spectrum of fibrillinopathies with MFS, and the term 'IEL' should be avoided in such cases.
|
24635535 |
2015 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results expand the mutation spectrum of the FBN1 gene and suggest that FBN1 mutations may be the major cause of congenital EL in Chinese patients.
|
25053872 |
2014 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.
|
24940037 |
2014 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These phenotypes provide evidence that missense mutations in exons 41 and 42 of FBN1 lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic FBN1 mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis.
|
23897642 |
2013 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
She had no systemic characteristics of Marfan syndrome, however she exhibited a mutation of FBN1, Arg 545 Cys, which has been found to correlate with ectopia lentis but not with aortic dissection.
|
23719250 |
2013 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In Marfan syndrome (MFS), FBN1 mutations lead to ectopia lentis.
|
24265020 |
2013 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FBN1 are mainly responsible for the Marfan syndrome (MFS), recognized by its pleiotropic clinical features including tall stature and arachnodactyly, aortic dilatation and dissection, and ectopia lentis.
|
22242013 |
2012 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma.
|
22034023 |
2012 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We indentified a p.Y754C mutation in FBN1, which is the causative mutation for EL in this family.
|
22393277 |
2012 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dominant FBN1 mutations cause IEL or syndromic ectopia lentis (Marfan syndrome and Weill-Marchesani syndrome).
|
21989719 |
2012 |
|
Ectopia Lentis
|
0.700 |
Biomarker
|
disease |
CTD_human |
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
|
22772368 |
2012 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FBN1 mutations typically cause the Marfan syndrome, an autosomal dominant disorder manifesting with skeletal overgrowth, aortic aneurysm, and lens dislocation (ectopia lentis).
|
21858451 |
2011 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The findings presented in this paper validate the necessity of FBN1 gene testing in all individuals presenting with isolated EL.
|
21932315 |
2011 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, 36 consecutive probands with EL who did not fulfill the Ghent criteria for MFS were screened for mutations in FBN1 and ADAMTSL4.
|
20564469 |
2010 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two novel FBN1 mutations associated with ectopia lentis and marfanoid habitus in two Chinese families.
|
19390640 |
2009 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In common with previous studies, genotype-phenotype analysis showed that a FBN1 mutation was more likely to be identified in patients fulfilling Ghent criteria (P = 0.005) and in those who had ectopia lentis (EL) (P < 0.0001).
|
19161152 |
2009 |
|
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It can be concluded that FBN1 mutations involving cysteine substitutions are usually associated with MFS and EL with some MFS features.
|
18471089 |
2008 |