Primary failure of eruption: From molecular diagnosis to therapeutic management
Introduction: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R, and recently...
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Elsevier
2023-03-01
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| Series: | Journal of Oral Biology and Craniofacial Research |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2212426823000015 |
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| author | Delphine Wagner Tristan Rey Marie-Cécile Maniere Sarah Dubourg Agnès Bloch-Zupan Marion Strub |
| author_facet | Delphine Wagner Tristan Rey Marie-Cécile Maniere Sarah Dubourg Agnès Bloch-Zupan Marion Strub |
| author_sort | Delphine Wagner |
| collection | DOAJ |
| description | Introduction: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R, and recently in KMT2C genes are the known etiologies. The aim of this work was to describe the variability of clinical presentations of PFE associated with pathogenic variants of PTHR1. Material and methods: Diagnosis of non-syndromic PFE has been suggested for three members of a single family. Clinical and radiological features were collected, and genetic analyses were performed. Results: The clinical phenotype (type and number of involved teeth, depth of bone inclusions, functional consequences) is variable within the family. Severe tooth resorptions were detected. A heterozygous substitution in PTH1R (NM_000316.3): c.899T > C was identified as a class 4 likely pathogenic variant. The multidisciplinary management is described involving oral biology, pediatric dentistry, orthodontics, oral surgery, and prosthodontics. Conclusion: In this study, we report a new PTH1R variant involved in a familial form of PFE with variable expressivity. Therapeutic care is complex and difficult to systematize, hence the lack of evidence-based recommendations and clinical guidelines. |
| format | Article |
| id | doaj-art-dfb7d3f66b954cd1b908daa1979bdd29 |
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| issn | 2212-4268 |
| language | English |
| publishDate | 2023-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Oral Biology and Craniofacial Research |
| spelling | doaj-art-dfb7d3f66b954cd1b908daa1979bdd292025-08-20T02:02:57ZengElsevierJournal of Oral Biology and Craniofacial Research2212-42682023-03-0113216917610.1016/j.jobcr.2023.01.001Primary failure of eruption: From molecular diagnosis to therapeutic managementDelphine Wagner0Tristan Rey1Marie-Cécile Maniere2Sarah Dubourg3Agnès Bloch-Zupan4Marion Strub5Université de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue Ste Elisabeth, 67000, Strasbourg, France; Hôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France; UMR 7357, ICube laboratory, Boulevard Sébastien Brant 300, 67412, Illkirch, FranceUniversité de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Illkirch, France; Hôpitaux Universitaires de Strasbourg, Laboratoires de diagnostic génétique, Institut de Génétique Médicale d’Alsace, Strasbourg, FranceUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue Ste Elisabeth, 67000, Strasbourg, France; Hôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France; INSERM (French National Institute of Health and Medical Research), UMR 1260, Regenerative Nanomedicine (RNM), Fédération de Médecine Translationnelle de Strasbourg (FMTS), 11 rue Human, 67000, Strasbourg, FranceHôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, FranceUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue Ste Elisabeth, 67000, Strasbourg, France; Hôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France; Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS- UMR7104, Illkirch, France; Université de Strasbourg, Institut d’études avancées (USIAS), Strasbourg, FranceUniversité de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue Ste Elisabeth, 67000, Strasbourg, France; Hôpitaux Universitaires de Strasbourg (HUS), Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Centre de référence des maladies rares orales et dentaires O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France; INSERM (French National Institute of Health and Medical Research), UMR 1260, Regenerative Nanomedicine (RNM), Fédération de Médecine Translationnelle de Strasbourg (FMTS), 11 rue Human, 67000, Strasbourg, France; Corresponding author. Université de Strasbourg, Faculté de Chirurgie Dentaire, 8 rue Ste Elisabeth, 67000, Strasbourg, France.Introduction: Primary Failure of Eruption (PFE) is a rare condition affecting posterior teeth eruption resulting in a posterior open bite malocclusion. Differential diagnosis like ankylosis or mechanical eruption failure should be considered. For non-syndromic forms, mutations in PTH1R, and recently in KMT2C genes are the known etiologies. The aim of this work was to describe the variability of clinical presentations of PFE associated with pathogenic variants of PTHR1. Material and methods: Diagnosis of non-syndromic PFE has been suggested for three members of a single family. Clinical and radiological features were collected, and genetic analyses were performed. Results: The clinical phenotype (type and number of involved teeth, depth of bone inclusions, functional consequences) is variable within the family. Severe tooth resorptions were detected. A heterozygous substitution in PTH1R (NM_000316.3): c.899T > C was identified as a class 4 likely pathogenic variant. The multidisciplinary management is described involving oral biology, pediatric dentistry, orthodontics, oral surgery, and prosthodontics. Conclusion: In this study, we report a new PTH1R variant involved in a familial form of PFE with variable expressivity. Therapeutic care is complex and difficult to systematize, hence the lack of evidence-based recommendations and clinical guidelines.http://www.sciencedirect.com/science/article/pii/S2212426823000015Primary failure of eruptionPTH1R geneTooth resorptionCase report |
| spellingShingle | Delphine Wagner Tristan Rey Marie-Cécile Maniere Sarah Dubourg Agnès Bloch-Zupan Marion Strub Primary failure of eruption: From molecular diagnosis to therapeutic management Journal of Oral Biology and Craniofacial Research Primary failure of eruption PTH1R gene Tooth resorption Case report |
| title | Primary failure of eruption: From molecular diagnosis to therapeutic management |
| title_full | Primary failure of eruption: From molecular diagnosis to therapeutic management |
| title_fullStr | Primary failure of eruption: From molecular diagnosis to therapeutic management |
| title_full_unstemmed | Primary failure of eruption: From molecular diagnosis to therapeutic management |
| title_short | Primary failure of eruption: From molecular diagnosis to therapeutic management |
| title_sort | primary failure of eruption from molecular diagnosis to therapeutic management |
| topic | Primary failure of eruption PTH1R gene Tooth resorption Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2212426823000015 |
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