|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
|
25190660 |
2014 |
|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
|
20036349 |
2010 |
|
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
|
23599324 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of genetic variations in ZEB1 and TCF4 SNP rs613872 in patients with FECD from northern India that suggests a possible role in disease pathogenesis and the regulation of endothelial cell density.
|
26622166 |
2015 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of our African American cases and as such does not appear to significantly contribute to the genetic risk of FECD in African Americans.
|
24348007 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
|
20036349 |
2010 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated.
|
25190660 |
2014 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several genes have been implicated as playing a pathogenic role in the corneal endothelial dystrophies: VSX1 mutations in PPCD1; COL8A2 mutations in PPCD2 and FECD; ZEB1 mutations in PPCD3 and FECD; and SLC4A11 mutations in CHED2 and FECD.
|
23662738 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the keratoconus cohort, a novel heterozygous pathogenic mutation in exon 7 (c.1920G > T; p.Gln640His) of ZEB1 was identified in a family affected with keratoconus and Fuchs' endothelial corneal dystrophy.
|
23599324 |
2013 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The detailed clinical features of PPCD associated with a novel ZEB1 mutation are supportive of the previously proposed range of phenotype parameters.
|
19432861 |
2010 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
|
19997581 |
2009 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ten of the 38 individuals (26.3%) had average keratometric values greater than 48.0 D OU: 10 of 27 individuals with PPCD (37.0%; 6 of 7 individuals with ZEB1 mutations [85.7%] and 4 of 20 individuals without ZEB1 mutations [20.0%]) and 0 of 11 unaffected individuals (P = .04 for unaffected vs affected individuals; P = .004 for individuals with PPCD with vs without ZEB1 mutation).
|
24113819 |
2013 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To the authors' knowledge, we report the earliest clinical presentation of posterior polymorphous corneal dystrophy resulting from a de novo mutation in ZEB1.
|
26619383 |
2016 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Posterior polymorphous corneal dystrophy (PPCD) is a dominantly inherited disorder of the corneal endothelium that has been associated with mutations in the zinc-finger E-box binding homeobox 1 gene (ZEB1) gene in approximately one-third of affected families.
|
24780443 |
2014 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parallel sequencing in the detection of ZEB1 mutations.
|
30851240 |
2019 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
|
17437275 |
2007 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.
|
31201376 |
2020 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
|
28742278 |
2017 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, the failure to identify presumed pathogenic coding or non-coding OVOL2 or ZEB1 variants, or CNV involving the PPCD1 and PPCD3 loci in 26 other PPCD probands suggests that other genetic loci may be involved in the pathogenesis of PPCD.
|
28046031 |
2017 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we report missense mutations in TCF8, a transcription factor whose haploinsufficiency causes posterior polymorphous corneal dystrophy (PPCD), in a cohort of late-onset FCD patients.
|
20036349 |
2010 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For data analysis the PPCD patients were divided based on either the molecular genetic cause of their disease as PPCD1 (37 samples), PPCD3 (1 sample) and PPCDx (not linked to a known PPCD loci, 4 samples) or on the presence (17 samples) or absence (25 samples) of secondary glaucoma or on whether they had undergone penetrating keratoplasty (PK, 32 samples) or repeated PK (rePK, 7 samples).
|
28414732 |
2017 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The absence of ZEB1 promoter region mutations in probands without a ZEB1 coding region mutation indicates that other genetic loci, such as the PPCD1 locus, are involved in the pathogenesis of PPCD.
|
23559851 |
2013 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Therefore, PPCD is associated with TCF8 mutations in one quarter of affected families in this study, or about one third of all PPCD families that have been screened thus far.
|
17935237 |
2007 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The phenotype associated with changes in the ZEB1 gene exhibits variable expression and incomplete penetrance and seems to have a low risk for secondary glaucoma or the need for keratoplasty compared to PPCD linked to 20p11.2.
|
21067486 |
2010 |
|
Corneal dystrophy
|
0.140 |
GeneticVariation
|
disease |
BEFREE |
No pathogenic sequence variations were detected in TGFBI or ZEB1 of the proband nor on the Asper Corneal Dystrophy gene chip (302 mutations in 12 genes).
|
19710953 |
2009 |