Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.

ABSTRACT: Amelogenesis imperfecta (AI) refers to a genetically and clinically heterogeneous group of inherited disorders affecting the structure, composition, and quantity of tooth enamel. Both non-syndromic and syndromic forms of AI have been described and several genes affecting various aspects of the enamel physiology have been reported. Genetically modified murine models of various genes have provided insights into the complex regulation of proper amelogenesis. Non-syndromic AI occurs spontaneously also in dogs with known recessive variants in ENAM and SLC24A4 genes. Unlike rodents with a reduced dentition and continuously erupting incisors, canine models are valuable for human AI due to similarity in the dental anatomy including deciduous and permanent teeth. We have performed a series of clini

SUBMITTER: Hytonen MK 

PROVIDER: S-EPMC6536466 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature