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Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel. The affected enamel can be hypoplastic and/or hypomineralized. In this study, we identified ACPT (testicular acid phosphatase) biallelic mutations causing non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta (AI) in individuals from six apparently unrelated Turkish families. Families 1, 4, and 5 were affected by the homozygous ACPT mutation c.713C>T (p.Ser238Leu), family 2 by the homozygous ACPT mutation c.331C>T (p.Arg111Cys), family 3 by the homozygous ACPT mutation c.226C>T (p.Arg76Cys), and family 6 by the compound heterozygous ACPT mutations c.382G>C (p.Ala128Pro) and 397G>A (p.Glu133Lys). Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization. Immunohistochemical analysis confirmed localization of ACPT in secretory-stage ameloblasts. The study results provide evidence for the crucial function of ACPT during amelogenesis.

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Tooth enamel is the most highly mineralized tissue in vertebrates. Enamel crystal formation and elongation should be well controlled to achieve an exceptional hardness and a compact microstructure. Enamel matrix calcification occurs with several matrix proteins, such as amelogenin, enamelin, and ameloblastin. Among them, amelogenin is the most abundant enamel matrix protein, and multiple isoforms resulting from extensive but wellconserved alternative splicing and postsecretional processing have been identified. In this report, we recruited a family with a unique enamel defect and identified a silent mutation in exon 4 of the AMELX gene. We show that the mutation caused the inclusion of exon 4, which is almost always skipped, in the mRNA transcript. We further show, by generating and characterizing a transgenic animal model, that the alteration of the ratio and quantity of the developmentally conserved alternative splicing repertoire of AMELX caused defects in enamel matrix mineralization.

The purpose of this study was to evaluate the position and aspects of maxillary canine impactions in the Korean population and investigate its comparison with the previous reports, while aiding in the establishment of diagnosis and treatment planning by revealing the influential factors of root resorption associated with such impactions. The subjects of this study consisted of 186 teeth from 148 patients, who had visited Seoul National University Dental Hospital due to impacted canines and had taken computerized tomographic images and panorama radiographic images. As a result, maxillary canine impaction in the Korean population occurred 1.5 times more often in females (F:M = 89:59) than males. Regarding the position of impaction, there were three times more buccal impactions (B:P = 140:46) than palatal impactions. The occurrence of root resorption was as high as 49.5 per cent. In evaluating the influential factors affecting adjacent root resorption, the significance of the impacted angulation was insufficient (P = 0.652). However, the buccopalatal position (P < 0.0001) and mesiodistal placement (P = 0.006, 0.037) of the impacted tooth were determined to be significant factors. Therefore, the adjacent root resorption caused by impacted maxillary canines can be stated to exhibit a greater amount of resorption as the positional proximity of the canine crown and lateral incisor root increases.