ArticleMolecular vision2009
Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
Article in Molecular vision, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 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
- Article
- Cell derived matrices from bovine corneal endothelial cells as a model to study cellular dysfunction.Experimental eye research · 2023Article
- Posterior Polymorphous Corneal Dystrophy in a Patient with a NovelInternational journal of molecular sciences · 2022Article
- Expression and Function of ZEB1 in the Cornea.Cells · 2021Review
- Fuchs endothelial corneal dystrophy and corneal endothelial diseases: East meets West.Eye (London, England) · 2020Review
- REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.Molecular vision · 2019Review
- Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Investigative ophthalmology & visual science · 2017Article
- Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.PloS one · 2017Article
- Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.Molecular vision · 2017Article
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.European journal of human genetics : EJHG · 2016Article
- Transcriptome analysis of the human corneal endothelium.Investigative ophthalmology & visual science · 2014Article
- Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.Investigative ophthalmology & visual science · 2014Article
- First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.Case reports in ophthalmology · 2014Article
- Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.Vision research · 2014Article
- Genetics of the corneal endothelial dystrophies: an evidence-based review.Clinical genetics · 2013Review
- Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.Molecular vision · 2013Article
- The genetics of Fuchs' corneal dystrophy.Expert review of ophthalmology · 2012Article
- Molecular bases of corneal endothelial dystrophies.Experimental eye research · 2012Review
- Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.Investigative ophthalmology & visual science · 2012Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePosterior Polymorphous Dystrophy (PPCD) is a genetically heterogeneous corneal dystrophy, with linkage to three different chromosomal loci, with several genes in these loci being implicated. The role of both VSX1 and COL8A2 in PPCD remains controversial but recent work suggests that mutations in the transcription factor gene ZEB1/TCF8 account for disease in up to 30% of subjects, with a significant association with connective tissue abnormalities. This study aimed to determine the phenotype and contribution of ZEB1 mutations in a New Zealand PPCD population
methodsFollowing informed consent, 11 probands with PPCD underwent extensive clinical characterization; including a questionnaire to determine birth history, general health, and the incidence of connective tissue abnormalities, slit lamp examination, photography and in vivo confocal microscopy. Family members were recruited where available. Biological specimens underwent mutational analysis of all nine coding exons of ZEB1.
resultsZEB1 mutational analysis identified one mutation in the 11 probands (9.1%), a novel mutation in the initiating methionine of exon 1, c.1A-->G that results in the protein change p.Met1Val, with resultant aberrant initiation of translation. This mutation segregated with disease in the family, and was not present in 100 control chromosomes. No other ZEB1 mutations were observed in this cohort.
conclusionRecent studies suggest that ZEB1 mutations may account for PPCD in 18 to 30% of cases, with the majority of the mutations in exons 5 and 7. Clinical and molecular analyses in this New Zealand cohort show a much lower incidence of ZEB1 sequence change, confirming the genetic heterogeneity of PPCD. We also report identification of a novel mutation in the initiating methionine that removes the Kozak sequence, thereby altering the site of initiation translation.
Indexed as
Identifiers
19997581PMC2788618W2119256517What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.