ArticleEuropean journal of human genetics : EJHG2012
Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 82 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- The Genetic and Epigenetic Architecture of Keratoconus: Emerging Pathways and Clinical Implications.Genes · 2026Review
- Inter-Eye Molecular Discrepancies in the Corneal Epithelium Point to TFRC in the Keratoconus Severity Signature and Mechanism of Cone Formation.Investigative ophthalmology & visual science · 2025Article
- Genetics of Keratoconus: A Comprehensive Review.Genes · 2025Review
- Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.Eye and vision (London, England) · 2025Article
- Computational approaches for identifications of altered ion channels in keratoconus.Eye (London, England) · 2025Article
- Shared molecular profiles of post-laser vision correction ectasia and keratoconus with key differences inFrontiers in molecular biosciences · 2025Article
- Differentially expressed microRNAs targeting genes in key pathways in keratoconus.Frontiers in genetics · 2024Article
- Investigation of Potential Crucial Genes and Key Pathways in Keratoconus: An Analysis of Gene Expression Omnibus Data.Biochemical genetics · 2023Article
- Review
- Big data in corneal diseases and cataract: Current applications and future directions.Frontiers in big data · 2023Review
- Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing.Journal of ophthalmology · 2022Article
- Evaluating the association between single nucleotide polymorphisms in the stonin 2 (Annals of translational medicine · 2021Article
- Omics analyses in keratoconus: from transcriptomics to proteomics.Current ophthalmology reports · 2020Article
- Association of Genetic Variation With Keratoconus.JAMA ophthalmology · 2020Article
- Replication of the Association Between Keratoconus and Polymorphisms inFrontiers in genetics · 2020Article
- PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.Scientific reports · 2019Article
- The Proteins of Keratoconus: a Literature Review Exploring Their Contribution to the Pathophysiology of the Disease.Advances in therapy · 2019Review
- Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.Ophthalmology and therapy · 2018Review
- Coordinated microRNA/mRNA expression profiles reveal a putative mechanism of corneal epithelial cell transdifferentiation from skin epidermal stem cells.International journal of molecular medicine · 2018Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, represents a major cause of corneal transplantations. Genetic and environmental factors have a role in the etiology of this complex disease. Previously reported linkage analysis revealed that chromosomal region 13q32 is likely to contain causative gene(s) for familial KTCN. Consequently, we have chosen eight positional candidate genes in this region: MBNL1, IPO5, FARP1, RNF113B, STK24, DOCK9, ZIC5 and ZIC2, and sequenced all of them in 51 individuals from Ecuadorian KTCN families and 105 matching controls. The mutation screening identified one mutation and three sequence variants showing 100% segregation under a dominant model with KTCN phenotype in one large Ecuadorian family. These substitutions were found in three different genes: c.2262A>C (p.Gln754His) and c.720+43A>G in DOCK9; c.2377-132A>C in IPO5 and c.1053+29G>C in STK24. PolyPhen analyses predicted that c.2262A>C (Gln754His) is possibly damaging for the protein function and structure. Our results suggest that c.2262A>C (p.Gln754His) mutation in DOCK9 may contribute to the KTCN phenotype in the large KTCN-014 family.
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Registered trials
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