Skip to main content
main-content

01.12.2014 | Review | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

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

Zeitschrift:
Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Autoren:
Muriel de la Dure-Molla, Mickael Quentric, Paulo Marcio Yamaguti, Ana-Carolina Acevedo, Alan J Mighell, Miikka Vikkula, Mathilde Huckert, Ariane Berdal, Agnes Bloch-Zupan
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-84) contains supplementary material, which is available to authorized users.
Ariane Berdal and Agnes Bloch-Zupan contributed equally to this work.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

MDM, MQ, ACA, wrote the manuscript. AM, MV, AB, ABZ, MU contributed towards the revision of the manuscript. All authors read and approved the final manuscript. MU and MQ explored the genotype of AI patients.

Abstract

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.
Zusatzmaterial
Additional file 1:Detailed description of oral phenotype of reported cases with clinical features potentially describing Enamel Renal Syndrome.(PDF 386 KB)
13023_2014_770_MOESM1_ESM.pdf
Authors’ original file for figure 1
13023_2014_770_MOESM2_ESM.tif
Authors’ original file for figure 2
13023_2014_770_MOESM3_ESM.tif
Authors’ original file for figure 3
13023_2014_770_MOESM4_ESM.tif
Authors’ original file for figure 4
13023_2014_770_MOESM5_ESM.tif
Authors’ original file for figure 6
13023_2014_770_MOESM6_ESM.pdf
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2014

Orphanet Journal of Rare Diseases 1/2014 Zur Ausgabe

Reviewer Acknowledgement

Reviewer acknowledgement 2014