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      Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta

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          Abstract

          Amelogenesis imperfecta (AI) is a group of enamel development disorders that alter the structure and chemical composition of the tissue. There is great variability in the clinical presentation; according to Witkop, AI can be categorized into 14 subtypes, which makes its diagnosis extremely complex.

          Objective:

          This study aimed to describe and determine the frequency of clinical and radiographic features and inheritance patterns found in 41 Chilean families diagnosed with diverse types of AI.

          Material and Methods:

          We analyzed the clinical records, photographs, pedigrees and radiographs of 121 individuals recruited between 2003 and 2016. All of the information was included in a database that was analyzed using the application Stata 14.

          Results:

          The 72 affected individuals had average age of 16 years, and no sex association with the presence of AI was found. The most frequent clinical subtypes were as follows: 43% hypomature, 25% hypoplastic, 21% hypomature/hypoplastic, 7% hypocalcified and 4% hypocalcified/hypoplastic. The number of severely affected teeth was 22, which occurred in the patients with hypocalcified and hypocalcified/hypoplasic AI who presented the highest number of damaged teeth. Caries and periodontal disease were found in 47 and 32% of the patients, respectively. Malocclusions were observed in 43% of the individuals with AI, with open bite being the most frequent. Radiographically, the thickness of the enamel decreased in 51% of the patients, and 80% showed decreased radiopacity of the enamel compared to that of dentin. Autosomal dominant inheritance pattern was found in 37% of the families with hypoplastic AI, and autosomal recessive pattern was present in 56% of the other clinical subtypes, but more frequently in those affected with hypomature and hypocalcified AI.

          Conclusion:

          Of the five clinical subtypes, autosomal recessive hypomature, autosomal dominant hypoplastic and autosomal recessive hypomature/hypoplastic AI were the most prevalent subtypes in this group.

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          Most cited references26

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          Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

          The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a second small family. We have identified five further ethnically diverse families cosegregating CRD and AI. Phenotypic characterization of teeth and visual function in the published and new families reveals a consistent syndrome in all seven families, and all link or are consistent with linkage to 2q11, confirming the existence of a genetically homogenous condition that we now propose to call Jalili syndrome. Using a positional-candidate approach, we have identified mutations in the CNNM4 gene, encoding a putative metal transporter, accounting for the condition in all seven families. Nine mutations are described in all, three missense, three terminations, two large deletions, and a single base insertion. We confirmed expression of Cnnm4 in the neural retina and in ameloblasts in the developing tooth, suggesting a hitherto unknown connection between tooth biomineralization and retinal function. The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization.
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            Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.

            C J Witkop (1988)
            The classification and prevalence of amelogenesis imperfecta is updated based upon new information in the literature. Problems with the currently used classification of inherited dentin defects are discussed.
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              Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

              Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and radiographically by one examiner. Genotyping was completed using genomic DNA obtained from blood or saliva. A total of 494 individuals were enrolled, with 430 (224 affected, 202 unaffected, and 4 not definitive) belonging to 71 families with conditions consistent with the diagnosis of AI. Diverse clinical phenotypes were observed (i.e. hypoplastic, hypocalcified, and hypomaturation). Genotyping revealed mutations in all 6 candidate genes. A molecular diagnosis was made in 132 affected individuals (59%) and in 26 of the families (37%). Mutations involved 12 families with FAM83H (46%), 6 families with AMELX (23%), 3 families with ENAM (11%), 2 families with KLK4 and MMP20 (8% for each gene), and 1 family with a WDR72 mutation (4%). Phenotypic variants were associated with allelic FAM83H and AMELX mutations. Two seemingly unrelated families had the same KLK4 mutation. Families affected with AI where candidate gene mutations were not identified could have mutations not identifiable by traditional gene sequencing (e.g. exon deletion) or they could have promoter sequence mutations not evaluated in this study. However, the results suggest that there remain new AI causative genes to be identified. Copyright © 2011 S. Karger AG, Basel.
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                Author and article information

                Journal
                J Appl Oral Sci
                J Appl Oral Sci
                jaos
                Journal of Applied Oral Science
                Faculdade De Odontologia De Bauru - USP
                1678-7757
                1678-7765
                2019
                01 April 2019
                : 27
                : e20180359
                Affiliations
                [1 ]Universidad de Chile, Facultad de Odontología, Departamento de Patología y Medicina Oral, Santiago, Chile.
                [2 ]Universidad de Chile, Facultad de Odontología, Santiago, Chile.
                [3 ]Universidad de Chile, Facultad de Odontología, Programa de Magister en Ciencias Odontológicas, Santiago, Chile.
                [4 ]Universidad de Chile, Facultad de Odontología, Instituto de Investigación en Ciencias Odontológicas, Santiago, Chile.
                [5 ]Universidad de Chile, Facultad de Odontología, Departamento del Niño y Ortopedia Dentomaxilar, Santiago, Chile.
                [6 ]Universidad de Chile, Facultad de Medicina, Instituto de Ciencias Biomédicas, Santiago, Chile.
                [7 ]U-Odontología: Red de Investigación en Enfermedades Orales Complejas, Santiago, Chile.
                Author notes
                Corresponding address: Blanca Urzúa Orellana, Instituto de Investigación en Ciencias Odontológicas - Facultad de Odontología - Universidad de Chile. Avenida Sergio Livingstone 943 - Comuna de Independencia - Santiago - Chile. Phone: +56 2 29781793 e-mail: brurzua@ 123456gmail.com ; brurzua@ 123456odontologia.uchile.cl
                [*]

                These authors contributed equally to this manuscript.

                Author information
                http://orcid.org/0000-0002-2024-9132
                http://orcid.org/0000-0002-8405-799X
                http://orcid.org/0000-0001-8483-3496
                http://orcid.org/0000-0001-8351-3239
                http://orcid.org/0000-0001-5068-7259
                http://orcid.org/0000-0003-2443-2580
                Article
                00438
                10.1590/1678-7757-2018-0359
                6442841
                30970114
                978eaefd-eef2-409c-8412-5eea00d64e93

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 30 June 2018
                : 09 September 2018
                : 14 October 2018
                Page count
                Figures: 2, Tables: 5, Equations: 0, References: 30
                Categories
                Original Article

                amelogenesis imperfecta,dental enamel,malformations,hypoplasia,hypomineralization

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