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Review
. 2025 Jul 4:S1471-4914(25)00142-X.
doi: 10.1016/j.molmed.2025.06.002. Online ahead of print.

Burden of hereditary enamel disorders

Guilherme H S Bomfim  1 , Geneviève Dupont  2 , Timothy Wright  3 , Alan Mighell  4 , Rodrigo S Lacruz  5
Affiliations
Review

Burden of hereditary enamel disorders

Guilherme H S Bomfim et al. Trends Mol Med. .

Abstract

Dental enamel protects against the invasion of bacterial pathogens deep into the innervated layers of the tooth. Hereditary enamel disorders referred to as amelogenesis imperfecta (AI) can severely affect the development and mineralization of dental enamel compromising these functions. This rare disorder is often visible, carries a significant psychological and financial burden, and cosegregates with disease in other organs. Pathological variants in over 100 genes affect the enamel formation. Here, we describe the biology of enamel formation focusing on pathogenic variants underlying AI. We provide a computational model encapsulating new advances in calcium regulation during enamel formation. We also describe the psychological and financial burden of AI, its impact in systemic health, and discuss recent developments in diagnostic panels to detect AI.

Keywords: enamel; gene variants; hereditary disease; modeling calcium transport.

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Conflict of interest statement

Declaration of interests The authors declare no conflict of interest.

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