title: Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.
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.
authors: Laboratoire de Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'Alsace, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.
authors: M K
authors: MK
authors: Prasad
authors: Department of Pediatric Dentistry, Faculty of Dental Medicine, Mohammed V University, Rabat, Morocco.
authors: S
authors: S
authors: Laouina
authors: Department of Pediatric Dentistry, Faculty of Dental Medicine, Mohammed V University, Rabat, Morocco.
authors: M
authors: M
authors: El Alloussi
authors: Laboratoire de Génétique Médicale, INSERM U1112, Institut de Génétique Médicale d'Alsace, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.|Centre de Référence pour les Affections Rares en Génétique Ophtalmologique, Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors: H
authors: H
authors: Dollfus
authors: Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France agnes.bloch-zupan@unistra.fr.|Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de Référence des Manifestations Odontologiques des Maladies Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.|Institut de Génétique et de Biologie Moléculaire and Cellulaire, CNRS UMR7104, INSERM U964, Centre Européen de Recherche en Biologie et en Médecine, Université de Strasbourg, Illkirch, France.
authors: A
authors: A
authors: Bloch-Zupan
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics*; D001324:Autoantigens / Q000235:genetics*; D018389:Codon, Nonsense; D003241:Consanguinity; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009018:Morocco; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D000097805:Collagen Type XVII
chemical_list: D001324:Autoantigens; D018389:Codon, Nonsense; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII
keywords: enamel; enamel biomineralization/formation; genetics; genomics; molecular genetics; tooth development