ArticleEuropean journal of human genetics : EJHG2015
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 52 citations in OpenAlex.
- Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.Pharmaceuticals (Basel, Switzerland) · 2025Review
- The life cycle of type IV collagen.Matrix biology : journal of the International Society for Matrix Biology · 2025Review
- Genetic Analysis ofBiomedicines · 2025Article
- Proteomic insights into the extracellular matrix: a focus on proteoforms and their implications in health and disease.Expert review of proteomics · 2024Review
- Peroxidasin is required for full viability in development and for maintenance of tissue mechanics in adults.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- Mechanism of peroxidasin inactivation in hyperglycemia: Heme damage by reactive oxygen species.Biochemical and biophysical research communications · 2023Article
- Identification of brominated proteins in renal extracellular matrix: Potential interactions with peroxidasin.Biochemical and biophysical research communications · 2023Article
- Identification of novel characteristic biomarkers and immune infiltration profile for the anaplastic thyroid cancer via machine learning algorithms.Journal of endocrinological investigation · 2023Article
- Three Novel Mutations of Microphthalmos Identified in Two Chinese Families.Phenomics (Cham, Switzerland) · 2022Article
- Review
- Mammalian peroxidasin (PXDN): From physiology to pathology.Free radical biology & medicine · 2022Review
- Redox-Related Proteins in Melanoma Progression.Antioxidants (Basel, Switzerland) · 2022Article
- Peroxidasin Deficiency Re-programs Macrophages Toward Pro-fibrolysis Function and Promotes Collagen Resolution in Liver.Cellular and molecular gastroenterology and hepatology · 2022Article
- Peroxidasin-mediated bromine enrichment of basement membranes.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Role of Extracellular Matrix in Pathophysiology of Patent Ductus Arteriosus: Emphasis on Vascular Remodeling.International journal of molecular sciences · 2020Review
- Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.European journal of human genetics : EJHG · 2020Article
- CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.European journal of human genetics : EJHG · 2020Article
- Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.Genes · 2020Article
- Biallelic Deletion ofInternational journal of molecular sciences · 2019Article
- Contribution of a NovelInternational journal of molecular sciences · 2019Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. Sanger sequencing verified two Peroxidasin (PXDN) mutations in both sibs--a maternally inherited, nonsense mutation, c.1021C>T predicting p.(Arg341*), and a paternally inherited, 23-basepair deletion causing a frameshift and premature protein truncation, c.2375_2397del23, predicting p.(Leu792Hisfs*67). We re-examined exome data from 20 other patients with structural eye defects and identified two additional PXDN mutations in a sporadic male with bilateral microphthalmia, cataracts and anterior segment dysgenesis--a maternally inherited, frameshift mutation, c.1192delT, predicting p.(Tyr398Thrfs*40) and a paternally inherited, missense substitution that was predicted to be deleterious, c.947 A>C, predicting p.(Gln316Pro). Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. The gene is expressed in corneal epithelium and is secreted into the extracellular matrix. Defective peroxidasin has been shown to impair sulfilimine bond formation in collagen IV, a constituent of the basement membrane, implying that the eye defects result because of loss of basement membrane integrity in the developing eye. Our finding of a broader phenotype than previously appreciated for PXDN mutations is typical for exome-sequencing studies, which have proven to be highly effective for mutation detection in patients with atypical presentations. We conclude that PXDN sequencing should be considered in microphthalmia with anterior segment dysgenesis.
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