ArticleEuropean journal of human genetics : EJHG2016
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
- ZEB1 regulates glioma stemness through LIF repression.Scientific reports · 2017Pooled it
- Loss-of-function variants inJournal of medical genetics · 2024Article
- Disruption ofHuman mutation · 2024Article
- Posterior Polymorphous Corneal Dystrophy in a Patient with a NovelInternational journal of molecular sciences · 2022Article
- Snail Track Lesion with Flat Keratometry in Anterior Segment Dysgenesis Caused by a NovelJournal of clinical medicine · 2022Article
- Update on the genetics of corneal endothelial dystrophies.Indian journal of ophthalmology · 2022Review
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-FunctionGenes · 2021Article
- Inactivation ofDisease models & mechanisms · 2020Article
- CUGC for posterior polymorphous corneal dystrophy (PPCD).European journal of human genetics : EJHG · 2020Article
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.American journal of human genetics · 2018Article
- ZEB1 Is a Transcription Factor That Is Prognostic and Predictive in Diffuse Gliomas.Frontiers in neurology · 2018Article
- Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Investigative ophthalmology & visual science · 2017Article
- Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.Molecular vision · 2017Article
- Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.PloS one · 2017Article
- Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.PloS one · 2017Article
- Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.Investigative ophthalmology & visual science · 2016Article
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A substantial proportion of patients with posterior polymorphous corneal dystrophy (PPCD) lack a molecular diagnosis. We evaluated 14 unrelated probands who had a clinical diagnosis of PPCD who were previously determined to be negative for mutations in ZEB1 by direct sequencing. A combination of techniques was used including whole-exome sequencing (WES), single-nucleotide polymorphism (SNP) array copy number variation (CNV) analysis, quantitative real-time PCR, and long-range PCR. Segregation of potentially pathogenic changes with disease was confirmed, where possible, in family members. A putative run of homozygosity on chromosome 10 was identified by WES in a three-generation PPCD family, suggestive of a heterozygous deletion. SNP array genotyping followed by long-range PCR and direct sequencing to define the breakpoints confirmed the presence of a large deletion that encompassed multiple genes, including ZEB1. Identification of a heterozygous deletion spanning ZEB1 prompted us to further investigate potential CNVs at this locus in the remaining probands, leading to detection of two additional heterozygous ZEB1 gene deletions. 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.
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