Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
|
12446365 |
2002 |
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 |
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 |
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 |
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 |
A significantly higher incidence of ectopia lentis was found in the patients with MFS with an FBN1 mutation vs those without (P=.04).
|
11700157 |
2001 |
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the first EL mutation in the FBN1 gene confirming that EL is caused by mutations of this gene.
|
8188302 |
1994 |
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype analysis revealed that patients with an identified FBN1 mutation were more likely to have ectopia lentis and cardiovascular complications compared to those without an identifiable mutation (relative risks of 4.6 and 1.9, respectively).
|
14695540 |
2004 |
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 review the current literature regarding EL (isolated and other) and FBN1 mutations.
|
15054843 |
2004 |
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 |
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 |
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 |
Biomarker
|
disease |
LHGDN |
We report a recurrent R240C mutation in FBN1 in an autosomal dominant ectopia lentis family.
|
18079676 |
2007 |
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 |
Most strikingly, there was a significantly lower incidence of ectopia lentis in patients who carried a mutation that led to a premature termination codon (PTC) or a missense mutation without cysteine involvement in FBN1, as compared to patients whose mutations involved a cysteine substitution or splice site alteration.
|
16220557 |
2005 |
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 |
Ectopia Lentis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition to classic MFS, FBN1 mutations also give rise to EL and a severe neonatal form of MFS.
|
8136837 |
1994 |
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 |
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 |
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 |
FBN1 mutations can also cause other phenotypes, such as ectopia lentis (EL) and familial isolated thoracic aortic aneurysm and dissection (FAA).
|
11826022 |
2002 |
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 |
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 |
We identified three novel mutations and four known mutations in FBN1 and found cysteine substitution highly related to EL.
|
17679947 |
2007 |