You are here

Article Text

Article menu
Download PDFPDF
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. 1 Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
  2. 2 Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany
  3. 3 Departments of Ophthalmology, Pathology and Pharmacology, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA
  1. Correspondence to Professor Tero T Kivelä; tero.kivela{at}helsinki.fi

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

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Recently, Hany et al 1 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 al 1 listed, based on database search, three …

    View Full Text

    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.