Genes involved in amelogenesis imperfecta. Part II


  • 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, Tooth enamel, Tooth enamel proteins, Dental aesthetics, Genes, Syndrome


Amelogenesis imperfecta (AI) is a condition of genetic origin that alters the structure of tooth enamel. AI may exist in isolation or associated with other systemic conditions as part of a syndromic AI. Our goal is to describe in detail the genes involved in 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 2017, pre-selecting 1,573 articles, 40 of which were analyzed and discussed. The results indicate that mutations in 12 genes are responsible for syndromic AI: DLX3, COL17A1, LAMA3, LAMB3, FAM20A, TP63, CNNM4, ROGDI, LTBP3, FAM20C, CLDN16, CLDN19. These genes participate in the coding of proteins involved in phosphorylation, ion exchange, and production and degradation of the constituent elements of the mineral and organic phase of tooth enamel. The scientific evidence confirms that AI can be part of the syndrome and requires special attention from the medical-dental community.

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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 in 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. (2019). Genes involved in amelogenesis imperfecta. Part II. Revista Facultad De Odontología Universidad De Antioquia, 30(2), 236–247.