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Updated: Mar 15, 2026

Micro-dissection of Enamel Organ from Mandibular Incisor of Rats Exposed to Environmental Toxicants
Published on: March 29, 2018
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes
M K Prasad1, S Laouina2, M El Alloussi2
1Laboratoire de Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'Alsace, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
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.
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