Genes involucrados en la Amelogénesis Imperfecta. Parte I


  • Víctor Hugo Simancas-Escorcia Université Paris Diderot-Universidad de Cartagena
  • Alfredo Enrique Natera-Guarapo Universidad Central de Venezuela
  • María Gabriela Acosta-de Camargo Universidad de Carabobo



Amelogenesis imperfecta, Dental enamel, Dental enamel proteins, Dental esthetics, Genes


Amelogenesis imperfecta (AI) refers to a group of genetic alterations of the normal structure of the dental enamel that disturbs its clinical appearance. AI is classified as hypoplastic, hypocalcified, and hypomaturation. These abnormalities may exist in isolation or associated with other systemic conditions in the context of a syndrome. This article is aimed to thoroughly describe the genes involved in non-syndromic AI, the proteins encoded by these genes and their functions according to current scientific evidence. An electronic literature search was carried out from the year 2000 to December of 2017, preselecting 1,573 articles, 63 of which were analyzed and discussed. The results indicated that mutations in 16 genes are responsible for nonsyndromic AI: AMELX, AMBN, ENAM, LAMB3, LAMA3, ACPT, FAM83H, C4ORF26, SLC24A4, ITGB6, AMTN, MMP20, KLK4, WDR72, STIM1, GPR68. Future research with a translational approach will help identify new mutations or genes, contributing to the evolution in the way of classifying, diagnosing and treating the various types of amelogenesis imperfecta.

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Author Biographies

Víctor Hugo Simancas-Escorcia, Université Paris Diderot-Universidad de Cartagena

DDS. MSc in Cell Biology, Physiology and Pathology. PhD candidate in Physiology and Pathology, Université Paris-Diderot, France. Grupo Interdisciplinario de Investigaciones y Tratamientos Odontológicos Universidad de Cartagena, Colombia (GITOUC).

Alfredo Enrique Natera-Guarapo, Universidad Central de Venezuela

DDS. Professor of the Department of Operative Dentistry, Universidad Central de Venezuela. Head of Centro Venezolano de Investigación Clínica para el Tratamiento de la Fluorosis Dental y Defectos del Esmalte (CVIC FLUOROSIS).

María Gabriela Acosta-de Camargo, Universidad de Carabobo

DDS. Specialist in Pediatric Dentistry, Universidad Santa María. PhD in Dentistry, Universidad Central de Venezuela. Professor in the Department of Dentistry of the Child and Adolescent, Universidad de Carabobo


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How to Cite

Simancas-Escorcia, V. H., Natera-Guarapo, A. E., & Acosta-de Camargo, M. G. (2018). Genes involucrados en la Amelogénesis Imperfecta. Parte I. Revista Facultad De Odontología Universidad De Antioquia, 30(1), 105–120.

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