Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes

作者：Prasad M K; Laouina S; El Alloussi M; Dollfus H; Bloch Zupan A

来源：Journal of Dental Research, 2016, 95(13): 1457-1463.

DOI：10.1177/0022034516663200

<jats:p> 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&gt;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. </jats:p>

• 出版日期2016-12