Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Conclusion
These results indicate that COL17A1 variants are a frequent cause of dominantly inherited non-syndromic AI. Comparison of variants implicated in AI and JEB identifies similarities in type and distribution, with five identified in both conditions, one of which may also cause ERED. Increased availability of genetic testing means that more individuals will receive reports of heterozygous COL17A1 variants. We propose that patients with isolated AI or ERED, due to COL17A1 variants, should be considered as potential carriers for JEB and counselled accordingly, reflecting the importance of multidisciplinary care.

Source: Journal of Medical Genetics - March 21, 2024 Category: Genetics & Stem Cells Authors: Hany, U., Watson, C. M., Liu, L., Smith, C. E. L., Harfoush, A., Poulter, J. A., Nikolopoulos, G., Balmer, R., Brown, C. J., Patel, A., Simmonds, J., Charlton, R., Acosta de Camargo, M. G., Rodd, H. D., Jafri, H., Antanaviciute, A., Moffat, M., Al-Jawad, Tags: Open access Genotype-phenotype correlations Source Type: research