|
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 |
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 |
Biomarker
|
disease |
BEFREE |
As ZEB1 can act as an activator or repressor of downstream target gene expression depending on Wnt signaling pathway activation or deactivation, we also sought to determine whether or not Wnt signaling is active in PPCD by performing immunohistochemistry in corneal tissue sections derived from an individual affected with PPCD3 and from an individual with genetically unresolved PPCD.
|
31233731 |
2019 |
|
Polymorphous corneal dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
PPCD is characterized by a cadherin-switch and transition to an epithelial-like transcriptomic and cellular phenotype, which we study in a cell-based model of PPCD generated using CRISPR-Cas9-mediated ZEB1 knockout in corneal endothelial cells (CEnCs).
|
31194824 |
2019 |
|
Polymorphous corneal dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the PPCD transcriptome and the effect of decreased ZEB1 expression on corneal endothelial cell (CEnC) gene expression.
|
28654985 |
2017 |
|
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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
This study demonstrates that ZEB1 mutations account for a larger proportion of PPCD than previously estimated, and supports the hypothesis that haploinsufficiency of ZEB1 is the underlying molecular mechanism of disease for PPCD3.
|
26508574 |
2016 |
|
Polymorphous corneal dystrophy
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.
|
25441224 |
2015 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Sequence variants in 3 genes are associated with the development of PPCD, including ZEB1 that is responsible for PPCD3.
|
23807282 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
Sequence variants in 3 genes are associated with the development of PPCD, including ZEB1 that is responsible for PPCD3.
|
23807282 |
2013 |
|
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 |
Biomarker
|
disease |
BEFREE |
Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs' endothelial corneal dystrophy (FECD6; MIM #613270).
|
23599324 |
2013 |
|
Polymorphous corneal dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.
|
22199242 |
2012 |
|
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 |
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 |
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 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Identification of TCF8 as the PPCD3 gene provides a valuable tool for the study of critical gene regulation events in PPCD pathology and suggests a possible role for TCF8 mutations in altered structure and function of cells lining body cavities other than the anterior chamber of the eye.
|
16252232 |
2005 |