“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity of the enamel. Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain. However, all affect the quality of life because of mechan...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2020/8217919 |
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| author | Anne-Laure Bonnet Kevin Sceosole Arabelle Vanderzwalm Caroline Silve Anne-Margaux Collignon Celine Gaucher |
| author_facet | Anne-Laure Bonnet Kevin Sceosole Arabelle Vanderzwalm Caroline Silve Anne-Margaux Collignon Celine Gaucher |
| author_sort | Anne-Laure Bonnet |
| collection | DOAJ |
| description | Amelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity of the enamel. Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain. However, all affect the quality of life because of mechanical, psychological, esthetic, and/or social repercussions. Several gene mutations have been linked to AI as a nonsyndromic (isolated) phenotype or a wider syndrome. This case report aimed to present a family with dental structure anomalies followed up in the dental department of the Louis Mourier Hospital (APHP, France) for their extremely poor dental condition. The proband and his mother were clinically diagnosed with AI, and genetic analysis revealed an already described variant in DLX3. Then, the family was further examined for tricho-dento-osseous syndrome. This report illustrates the challenge of diagnosing dental structure anomalies, specifically AI, in adults and highlights the need for an accurate and accessible molecular diagnosis for those anomalies to discriminate between isolated and syndromic pathologies. |
| format | Article |
| id | doaj-art-a1e6f9c0b6d4486299a90925b691f816 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a1e6f9c0b6d4486299a90925b691f8162025-02-03T01:24:56ZengWileyCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/82179198217919“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical CaseAnne-Laure Bonnet0Kevin Sceosole1Arabelle Vanderzwalm2Caroline Silve3Anne-Margaux Collignon4Celine Gaucher5Université de Paris, EA2496, Montrouge, Paris F-92120, FranceDepartment of Odontology, AP-HP, Nord-Université de Paris, Hospital Louis Mourier, Paris 92700, FranceDepartment of Odontology, AP-HP, Nord-Université de Paris, Hospital Louis Mourier, Paris 92700, FranceDepartment of Genetic and Molecular Biology, AP-HP Centre-Université de Paris, Hospital Cochin, Paris F-75014, FranceUniversité de Paris, EA2496, Montrouge, Paris F-92120, FranceUniversité de Paris, EA2496, Montrouge, Paris F-92120, FranceAmelogenesis imperfecta (AI) represents rare tooth anomalies that affect the quality and/or quantity of the enamel. Clinical phenotypes display a wide spectrum, ranging from mild color changes to severe structural alterations with daily pain. However, all affect the quality of life because of mechanical, psychological, esthetic, and/or social repercussions. Several gene mutations have been linked to AI as a nonsyndromic (isolated) phenotype or a wider syndrome. This case report aimed to present a family with dental structure anomalies followed up in the dental department of the Louis Mourier Hospital (APHP, France) for their extremely poor dental condition. The proband and his mother were clinically diagnosed with AI, and genetic analysis revealed an already described variant in DLX3. Then, the family was further examined for tricho-dento-osseous syndrome. This report illustrates the challenge of diagnosing dental structure anomalies, specifically AI, in adults and highlights the need for an accurate and accessible molecular diagnosis for those anomalies to discriminate between isolated and syndromic pathologies.http://dx.doi.org/10.1155/2020/8217919 |
| spellingShingle | Anne-Laure Bonnet Kevin Sceosole Arabelle Vanderzwalm Caroline Silve Anne-Margaux Collignon Celine Gaucher “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case Case Reports in Genetics |
| title | “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case |
| title_full | “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case |
| title_fullStr | “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case |
| title_full_unstemmed | “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case |
| title_short | “Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case |
| title_sort | isolated amelogenesis imperfecta associated with dlx3 mutation a clinical case |
| url | http://dx.doi.org/10.1155/2020/8217919 |
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