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   Amelogenesis Imperfecta: 1 Family,2 Phenotypes,and 2 Mutated Genes  
   
نویسنده prasad m.k. ,laouina s. ,el alloussi m. ,dollfus h. ,bloch-zupan a.
منبع journal of dental research - 2016 - دوره : 95 - شماره : 13 - صفحه:1457 -1463
چکیده    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. © international & american associations for dental research 2016.
کلیدواژه enamel; enamel biomineralization/formation; genetics; genomics; molecular genetics; tooth development
آدرس laboratoire de génétique médicale,inserm u1112,institut de génétique médicale d'alsace,fédération de médecine translationnelle de strasbourg,université de strasbourg,strasbourg, France, department of pediatric dentistry,faculty of dental medicine,mohammed v university,rabat, Morocco, department of pediatric dentistry,faculty of dental medicine,mohammed v university,rabat, Morocco, 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 reference pour les affections rares en genetique ophtalmologique,service de génétique médicale,hôpitaux universitaires de strasbourg,strasbourg, France, faculté de chirurgie dentaire,université de strasbourg,8 rue st elisabeth,strasbourg,france,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
 
     
   
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