ArticleMolecular vision2009
A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
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 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Case report: A case of corneal deposits between binocular descemet membrane and corneal endothelial layer after small-incision lenticule extraction (SMILE) followed by HPV vaccine.Frontiers in medicine · 2022Article
- Functional study of SCCD pathogenic geneMolecular medicine reports · 2021Article
- UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras.Cell death & disease · 2018Article
- Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2018Article
- Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy.Journal of ophthalmology · 2016Article
- Structure of a membrane-embedded prenyltransferase homologous to UBIAD1.PLoS biology · 2014Article
- The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.Human mutation · 2013Article
- Schnyder Corneal Dystrophy in a Saudi Arabian Family with Heterozygous UBIAD1 Mutation (p.L121F).Middle East African journal of ophthalmology · 2011Article
- A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.Molecular vision · 2011Article
- Confocal microscopy of corneal dystrophies.Seminars in ophthalmologyReview
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the molecular defect causing Schnyder crystalline corneal dystrophy (SCCD) in a Chinese family with bilateral corneal abnormalities.
methodsThe Chinese SCCD family was subjected to a complete ophthalmic examination that included slit-lamp examination and slit-lamp photography to assess and document the crystalline deposits and arcus lipoides. In vivo laser scanning confocal microscopy and Fourier-domain OCT were also performed on both eyes of SCCD patients. Blood samples were taken for subsequent genetic analysis. The two coding exons of the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene were screened for mutations by direct sequencing.
resultsWe report on a novel heterozygous mutation of UBIAD1, G98S, in two patients with SCCD. The identified molecular defect cosegregates with the disease and is not found in 50 unaffected individuals. Morphological evaluation on SCCD by in vivo laser scanning confocal microscopy and Fourier-domain OCT highlighted pathological observations at the level of Bowman's membrane and anterior stroma.
conclusionThe newly identified mutation expands the spectrum of mutations in UBIAD1 that may cause pathological corneal cholesterol deposition. Observations by in vivo laser scanning confocal microscopy and Fourier-domain OCT were consistent with the previous histopathologic descriptions of SCCD.
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19649163PMC2718742W2136678265What OpenQuestion holds
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