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Genotype-phenotype correlations
Commentary
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
  1. Tero T Kivelä1,
  2. Walter Lisch2,
  3. Jayne E Weiss3
  1. 1Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
  2. 2Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany
  3. 3Departments of Ophthalmology, Pathology and Pharmacology, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA
  1. Correspondence to Professor Tero T Kivelä, Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; tero.kivela{at}helsinki.fi

https://doi.org/10.1136/jmg-2024-110310

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    Recently, Hany et al1 found that several heterozygous COL17A1 variants caused dominantly inherited, non-syndromic amelogenesis imperfecta. This is a clinically important observation.

    The authors drew attention to the fact that the epithelial recurrent erosions dystrophy (ERED), a dominantly inherited disease of the cornea that manifests as spontaneous epithelial erosions beginning in the first decade of life and eventually leads to scarring of the superficial cornea with reduced visual acuity,2 is also associated with certain heterozygous COL17A1 variants.3–7

    Hany et al1 listed, based on database search, three …

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    Footnotes

    • Contributors TK drafted the manuscript. TK, WL and JEW edited and accepted the final version of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.