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KMID : 0355820210420010061
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Korean Journal of Oral Anatomy
2021 Volume.42 No. 1 p.61 ~ p.70
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Amelogenesis imperfecta: a review
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Park Soo-Kyung
Kim Jung-Wook
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Abstract
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Tooth enamel is the hardest mineralized tissue in the human body and is a crucial tissue for function and esthetics. It is known that a series of ectodermal-mesenchymal interactions is involved in the enamel forming process (amelogenesis) under timely control and tight surveillance. Hereditary enamel defect, amelogenesis imperfecta (AI), is caused by an error that occurred at any stage of amelogenesis: the secretion of the enamel matrix, the calcification, and the maturation stages. AI is heterogeneous in clinical phenotype and genetic etiology. Affected enamel can be classified into three types according to its characteristics (hypoplastic, hypocalcified, and hypomatured) or two types (hypoplastic and hypomineralized) if it is difficult to distinguish between hypocalcified and hypomatured. Novel genes involved in the pathogenesis of AI have been identified by the improved molecular genetic analysis method. In this report, genetic etiologies of AI and its related phenotypes are described for understanding the normal and pathologic process of amelogenesis.
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KEYWORD
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Enamel, Amelogenesis imperfecta, Hypoplastic, Hypocalcified, Hypomatured, Hypomineralized, Gene
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