Abstract
Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family. This study highlights the phenotypic and genotypic heterogeneity of AI that can exist even within a single consanguineous family. Furthermore, the identification of novel mutations in COL17A1 and C4orf26 and their correlation with distinct AI phenotypes can contribute to a better understanding of the pathophysiology of AI and the contribution of these genes to amelogenesis.
Highlights
Amelogenesis imperfecta (AI) represents a group of conditions, genomic in origin, which affect the structure and clinical appearance of the enamel of all or most the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body [1]
AI is a developmental condition of the dental enamel that shows autosomal dominant, autosomal recessive, sexlinked and sporadic inheritance patterns, as well as sporadic cases
Many classifications of AI have evolved since the original division into hypoplastic and hypocalcified types in 1945 (See Table 1) [1,2,4,5,6,7,8,9,10,11,12,13]
Summary
8. Witkop CJ Jr, Rao S: Inherited defects in tooth stucture. In The clinical delineation of birth defects. 9. Winter GB, Brook AH: Enamel hypoplasia and anomalies of the enamel. Sundell S, Koch G: Hereditary amelogenesis imperfecta. I. Epidemiology and clinical classification in a Swedish child population.
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