Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

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 …

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