ArticleMolecular vision2015
Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy.
Article in Molecular vision, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- A PI(3,5)PNature communications · 2026Article
- VAC14 oligomerization is essential for the function of the FAB1/PIKfyve-VAC14-FIG4 complex.Molecular biology of the cell · 2025Article
- An advanced toolset to manipulate and monitor subcellular phosphatidylinositol 3,5-bisphosphate.The Journal of cell biology · 2025Article
- Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.Clinical & experimental ophthalmology · 2025Review
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Roles of PIKfyve in multiple cellular pathways.Current opinion in cell biology · 2022Review
- Article
- Corneal dystrophies.Nature reviews. Disease primers · 2020Review
- PI5P and PI(3,5)PCell structure and function · 2017Review
- Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
purposeTo report the identification of a novel frameshift mutation and copy number variation (CNV) in PIKFYVE in two probands with fleck corneal dystrophy (FCD).
methodsSlit-lamp examination was performed to identify characteristic features of FCD. After genomic DNA was collected, PCR amplification and automated sequencing of all 41 exons of PIKFYVE was performed. Using genomic DNA, quantitative PCR (qPCR) was performed to detect CNVs within PIKFYVE.
resultsIn the first FCD proband, numerous panstromal punctate opacities were observed in each of the proband's corneas, consistent with the diagnosis of FCD. Screening of PIKFYVE demonstrated a novel heterozygous frameshift mutation in exon 19, c.3151dupA, which is predicted to encode for a truncated PIKFYVE protein, p.(Asp1052Argfs*18). This variant was identified in an affected sister but not in the proband's unaffected mother or brother or 200 control chromosomes. The second FCD proband presented with bilateral, discrete, punctate, grayish-white stromal opacities. Exonic screening of PIKFYVE revealed no causative variant. However, CNV analysis demonstrated the hemizygous deletion of exons 15 and 16.
conclusionsWe report a novel heterozygous frameshift mutation (c.3151dupA) and a CNV in PIKFYVE, representing the first CNV and the fifth frameshift mutation associated with FCD.
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Identifiers
26396486PMC4575904What OpenQuestion holds
Registered trials
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