Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on mutations described in AI-related genes were obtai...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Blanca Urzúa, Ana Ortega-Pinto, Daniela Adorno-Farias, Irene Morales-Bozo, Sandra Rojas-Flores, Diego Briones-Marín, Constanza Lepiman-Torres
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	pathogenic variants amelogenesis imperfecta hereditary disease dental enamel syndromic non-syndromic Dentistry RK1-715
Acceso en línea:	https://doaj.org/article/480615746acb4d24acab42a9a3d05ac9
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:480615746acb4d24acab42a9a3d05ac9
record_format	dspace
spelling	oai:doaj.org-article:480615746acb4d24acab42a9a3d05ac92021-12-01T04:58:13ZExploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture2673-491510.3389/fdmed.2021.785382https://doaj.org/article/480615746acb4d24acab42a9a3d05ac92021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fdmed.2021.785382/fullhttps://doaj.org/toc/2673-4915Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on mutations described in AI-related genes were obtained from HGMD® Professional. The data in relation to the mutations, inheritance, phenotype, type of AI and country were supplemented with information from the literature. The identity codes and frequency values were obtained from the dbSNP, ClinVar and OMIM databases. The percentage of specificity (PE) was determined for each gene.Results: HGMD® describes 27 genes involved in AI, which we propose to group into 5 categories: (1) genes whose mutations are associated only with isolated AI, (2) genes whose mutations cause only syndromic AI, (3) genes with both mutations that cause isolated AI and mutations responsible for other pathologies, (4) genes with mutations responsible for syndromic AI and mutations that cause other pathologies, and (5) genes with mutations that cause isolated AI and mutations that cause AI associated with syndromes and other pathologies. Using the PE calculation, the genes were ranked into 5 specificity groups. The genes of category 1 are specific for isolated AI, while the genes of categories 2 and 4 are non-specific. Interestingly, we observed that mutations in some genes were associated with different types of cancer.Conclusion: The ACP4, AMTN, MMP20, ODAPH, RELT, SLC24A4 and SP6 genes participate in causing isolated AI, and the CNNM4, DLX3 and FAM20A genes participate in causing syndromic forms of AI.Blanca UrzúaAna Ortega-PintoDaniela Adorno-FariasIrene Morales-BozoSandra Rojas-FloresDiego Briones-MarínConstanza Lepiman-TorresFrontiers Media S.A.articlepathogenic variantsamelogenesis imperfectahereditary diseasedental enamelsyndromicnon-syndromicDentistryRK1-715ENFrontiers in Dental Medicine, Vol 2 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	pathogenic variants amelogenesis imperfecta hereditary disease dental enamel syndromic non-syndromic Dentistry RK1-715
spellingShingle	pathogenic variants amelogenesis imperfecta hereditary disease dental enamel syndromic non-syndromic Dentistry RK1-715 Blanca Urzúa Ana Ortega-Pinto Daniela Adorno-Farias Irene Morales-Bozo Sandra Rojas-Flores Diego Briones-Marín Constanza Lepiman-Torres Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture
description	Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on mutations described in AI-related genes were obtained from HGMD® Professional. The data in relation to the mutations, inheritance, phenotype, type of AI and country were supplemented with information from the literature. The identity codes and frequency values were obtained from the dbSNP, ClinVar and OMIM databases. The percentage of specificity (PE) was determined for each gene.Results: HGMD® describes 27 genes involved in AI, which we propose to group into 5 categories: (1) genes whose mutations are associated only with isolated AI, (2) genes whose mutations cause only syndromic AI, (3) genes with both mutations that cause isolated AI and mutations responsible for other pathologies, (4) genes with mutations responsible for syndromic AI and mutations that cause other pathologies, and (5) genes with mutations that cause isolated AI and mutations that cause AI associated with syndromes and other pathologies. Using the PE calculation, the genes were ranked into 5 specificity groups. The genes of category 1 are specific for isolated AI, while the genes of categories 2 and 4 are non-specific. Interestingly, we observed that mutations in some genes were associated with different types of cancer.Conclusion: The ACP4, AMTN, MMP20, ODAPH, RELT, SLC24A4 and SP6 genes participate in causing isolated AI, and the CNNM4, DLX3 and FAM20A genes participate in causing syndromic forms of AI.
format	article
author	Blanca Urzúa Ana Ortega-Pinto Daniela Adorno-Farias Irene Morales-Bozo Sandra Rojas-Flores Diego Briones-Marín Constanza Lepiman-Torres
author_facet	Blanca Urzúa Ana Ortega-Pinto Daniela Adorno-Farias Irene Morales-Bozo Sandra Rojas-Flores Diego Briones-Marín Constanza Lepiman-Torres
author_sort	Blanca Urzúa
title	Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture
title_short	Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture
title_full	Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture
title_fullStr	Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture
title_full_unstemmed	Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture
title_sort	exploring the pool of pathogenic variants of amelogenesis imperfecta: an approach to the understanding of its genetic architecture
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/480615746acb4d24acab42a9a3d05ac9
work_keys_str_mv	AT blancaurzua exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture AT anaortegapinto exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture AT danielaadornofarias exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture AT irenemoralesbozo exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture AT sandrarojasflores exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture AT diegobrionesmarin exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture AT constanzalepimantorres exploringthepoolofpathogenicvariantsofamelogenesisimperfectaanapproachtotheunderstandingofitsgeneticarchitecture
_version_	1718405658426998784

Exploring the Pool of Pathogenic Variants of Amelogenesis Imperfecta: An Approach to the Understanding of Its Genetic Architecture

Ejemplares similares