Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Mutations in the COL17A1 gene are known to cause the recessively inherited skin blistering disease junctional epidermolysis bullosa in some patients and a dominant corneal ulcerative disease in others. There are also hints in the literature of a link to tooth defects, but these have not been fully documented. Here we show that COL17A1 mutations are a relatively common cause of the dental enamel defect amelogenesis imperfecta, with dominant inheritance. As more patients undergo genetic testing, the findings of this study have implications for subsequent generations and highlight a potential need for multidisciplinary care in families with these three conditions.  (By Ummey Hany, https://jmg.bmj.com/content/early/2023/11/17/jmg-2023-109510 )

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