Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

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• 作者：Muriel de la Dure-Molla (13) (14)
  Mickael Quentric (13) (15)
  Paulo Marcio Yamaguti (16)
  Ana-Carolina Acevedo (16) (17)
  Alan J Mighell (18)
  Miikka Vikkula (15)
  Mathilde Huckert (19) (20) (21) (23)
  Ariane Berdal (13) (14)
  Agnes Bloch-Zupan (19) (20) (21) (22)
  
  13. Laboratory of Molecular Oral Pathophysiology ; INSERM UMRS 1138 ; Cordeliers Research Center ; Paris ; France
  14. Center of Rare Malformations of the Face and Oral Cavity (MAFACE) ; H么pital Rothschild ; Paris ; France
  15. Laboratory of Human Molecular Genetics ; de Duve Institute ; Universit茅 catholique de Louvain ; Brussels ; Belgium
  16. Oral Care Center for Inherited Disease ; University Hospital of Brasilia ; University of Brasilia ; Brasilia ; Brazil
  17. Department of Dentistry ; Health Sciences School ; University of Brasilia ; Brasilia ; Brazil
  18. School of Dentistry ; The University of Leeds ; Leeds ; UK
  19. Faculty of Dentistry ; University of Strasbourg (UdS) ; Strasbourg ; France
  20. Reference Centre for Orodental Manifestations of Rare Diseases ; P么le de M茅decine et Chirurgie Bucco-Dentaires ; H么pitaux Universitaires de Strasbourg (HUS) ; Strasbourg ; France
  21. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
  23. Laboratoire de G茅n茅tique M茅dicale ; UMRS 1112 ; Faculty of Medicine ; UdS ; Strasbourg ; France
  22. Institute of Genetics and Molecular and Cellular Biology (IGBMC) ; CNRS UMR 7104 - Inserm U 964 ; Illkirch ; France
  
• 关键词：Enamel Renal Syndrome (ERS) ; Amelogenesis Imperfecta and Gingival Fibromatosis syndrome (AIFGS) ; Enamel Dysplasia with Hamartomatous atypical Follicular Hyperplasia Syndrome (EDHFH) ; Amelogenesis Imperfecta ; Enamel defect ; Delayed tooth eruption ; Intra ; pulpal calcification ; Gingival hyperplasia ; FAM20A
• 刊名：Orphanet Journal of Rare Diseases
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：9
• 期：1
• 全文大小：711 KB
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• 刊物主题：Medicine/Public Health, general; Pharmacology/Toxicology; Medicinal Chemistry;
• 出版者：BioMed Central
• ISSN：1750-1172

文摘

Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects. Commonly described as an isolated trait, it may be observed concomitantly with other orodental and/or systemic features such as nephrocalcinosis in Enamel Renal Syndrome (ERS, MIM#204690), or gingival hyperplasia in Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome (AIGFS, MIM#614253). Patients affected by ERS/AIGFS present a distinctive orodental phenotype consisting of generalized hypoplastic AI affecting both the primary and permanent dentition, delayed tooth eruption, pulp stones, hyperplastic dental follicles, and gingival hyperplasia with variable severity and calcified nodules. Renal exam reveals a nephrocalcinosis which is asymptomatic in children affected by ERS. FAM20A recessive mutations are responsible for both syndromes. We suggest that AIGFS and ERS are in fact descriptions of the same syndrome, but that the kidney phenotype has not always been investigated fully in AIGFS. The aim of this review is to highlight the distinctive and specific orodental features of patients with recessive mutations in FAM20A. We propose ERS to be the preferred term for all the phenotypes arising from recessive FAM20A mutations. A differential diagnosis has to be made with other forms of AI, isolated or syndromic, where only a subset of the clinical signs may be shared. When ERS is suspected, the patient should be assessed by a dentist, nephrologist and clinical geneticist. Confirmed cases require long-term follow-up. Management of the orodental aspects can be extremely challenging and requires the input of multi-disciplinary specialized dental team, especially when there are multiple unerupted teeth.