Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

Pêgo, Sabina Pena Borges; Coletta, Ricardo D.; Dumitriu, Simona; Iancu, Daniela; Albanyan, Saleh; Kleta, Robert; Auricchio, Maria Teresa B.M.; Rocha, Breno Amaral; Martelli‐Júnior, Hercílio

doi:10.1016/j.oooo.2016.09.226

Cited by 23 publications

(30 citation statements)

References 26 publications

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“…El 1er y el 2do molar permanente son los órganos dentales frecuentemente afectados. En algunos pacientes, también se observan retrasos en otros dientes permanentes [33][34][35] . Radiológicamente, aquellos dientes que no hacen erupción en cavidad bucal, pueden hallarse anquilosados.…”

Section: Fenotipo Bucodentalunclassified

Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión

Simancas-Escorcia

Berdal

Caballero

2019

Duazary

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La Amelogénesis Imperfecta (AI) es alteración de la estructura y apariencia del esmalte dental de origen genético, puede presentarse como defecto aislado o sistémico. El Síndrome Amelogénesis imperfecta–Nefrocalcinosis (OMIM # 204690), también conocido como Síndrome Esmalte-Renal (ERS, en inglés), se caracteriza por la presencia de AI de tipo hipoplásico, hiperplasia gingival con mineralizaciones ectópicas, retraso y/o ausencia de la erupción dental y Nefrocalcinosis. Este síndrome es asociado a mutaciones autosómicas recesivas del gen FAM20A. El objetivo de esta revisión es exponer las características clínicas y fenotípicas de pacientes con el Síndrome Amelogénesis imperfecta–Nefrocalcinosis. La obtención del material fue realizado mediante una búsqueda electrónica en las bases de datos MEDLINE (PubMed), EBSCO- Host y Scopus (ScienceDirect). Los resultados confirman la escasa frecuencia de casos clínicos con el Síndrome Amelogénesis imperfecta–Nefrocalcinosis. Las características clínicas y fenotípicas se exponen de manera clara, sencilla y precisa. Se recomienda a los odontólogos generales y odontólogos pediátricos que al diagnosticar una AI, particularmente de tipo hipoplásico, realicen una detallada historia médica personal - familiar y contemplen una interconsulta con el servicio de nefrología que permita diagnosticar o realizar un seguimiento al estado renal del paciente de una forma preventiva.

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Section: Fenotipo Bucodentalunclassified

Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión

Simancas-Escorcia

Berdal

Caballero

2019

Duazary

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“…Table 1 Common oro-dental features of ERS according to de la Dure Molla et al 3Generalized thin hypoplastic or absent enamel Primary and permanent teeth affected In addition to the "common pro le" of ERS, several atypical features have been reported in the literature. Pêgo et al (8) reported an association of hypertrichosis and hearing loss in two ERS patients. Hearing loss is a common feature of Rain syndrome, a syndrome caused by FAM20C mutation.…”

Section: Introductionmentioning

confidence: 99%

Enamel Renal Syndrome: A Scoping Review Protocol

Roomaney¹,

Kabbashi²

2020

Preprint

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Background: Enamel Renal Syndrome (ERS) (OMIM # 204690) is a rare autosomal recessive disorder characterized by hypoplastic amelogenesis imperfecta (AI), failed tooth eruption, intra-pulpal calcifications, gingival enlargement and nephrocalcinosis. The rarity of the condition and the variability of the phenotype has led to ERS not being fully characterized. This scoping review aims to account for the range and current state of knowledge on ERS and synthesize these findings into a comprehensive summary, focusing on the pathophysiology, genotype-phenotype correlations and patient management from a dental perspective.Methods: The authors will conduct a systematic search of PubMed (MEDLINE), BioMed Central, EbscoHost Web, Web of Science and WorldCat. We will include all studies with human participants with a confirmed diagnosis of ERS. Articles will be screened in two stages i.e. initially by title and abstract screening and then full-text screening by two independent reviewers. Data extraction will be conducted using a customised electronic data extraction form. We will provide a narrative synthesis of the findings from the included studies. We will structure the results according to themes.Discussion: Dentists should be able to identify patients with clinical features of ERS so that they receive appropriate referrals for renal evaluation, genetic counselling and oral rehabilitation to increase the patient’s quality of life. A scoping review is the most appropriate method to conduct this comprehensive exploration of the current evidence which may be sparse due to the rarity of the condition. It will also enable us to identify gaps in the research.Registration: This study is registered with the Open Science Framework (OSF) (https://osf.io/cghsa).

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“…Similar phenotypes have been described under different names, including amelogenesis imperfecta and nephrocalcinosis syndrome 2,3 , amelogenesis imperfecta and gingival hyperplasia syndrome 4 and enamel-renal-gingival syndrome 5,6 . It is believed that these conditions represent in fact the same disease, caused by underlying FAM20A gene mutations 4,7,8,9 .…”

Section: Introductionmentioning

confidence: 99%

“…The protein encoded by FAM20A is expressed in the ameloblasts during secretory and maturation stages of enamel development, in suprabasal cells of the gingiva, odontoblasts, and dental pulp cells, indicating its fundamental role in enamel development and gingival homeostasis 4 . Several FAM20A mutations have been described in individuals with the ERS phenotype, including stopgain, frameshift, missense, and splice-site mutations 7,8,[12][13][14][15][16] .…”

Section: Introductionmentioning

confidence: 99%

Enamel Renal Syndrome: A Novel Homozygous Fam20a Founder Mutation in 5 New Brazilian Families

Mesquita¹,

Dourado²,

Santos³

et al. 2020

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology

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Enamel renal syndrome (ERS) is a rare autosomal recessive disorder that still not fully characterized. Here we investigated ERS characteristics in 11 patients from 5 Brazilian families through clinical examination, imaging, renal ultrasonography, laboratory tests and DNA sequencing. The patients' age ranged from 6 to 25 years old, and the presence of hypoplastic amelogenesis imperfecta, microdontia, intra-pulpal calcification, impacted posterior teeth with hyperplastic pericoronal follicles, gingival fibromatosis, ectopic calcifications on gingival and pericoronal tissues, and nephrocalcinosis were common findings to all patients. Only 4 patients showed abnormal laboratory tests (vitamin D, parathyroid hormone, phosphate, calcium). Intellectual disability and renal cysts were present in 2 patients each. Biallelic loss of function mutations in FAM20A gene, characterized by one base pair deletion in exon 11, resulting in a frameshift replacing a glutamine at codon 483 for a lysine and terminating at position 24 [NG_029809.1: c.1447delG; p.(Glu483Lysfs*24)], were detected in all patients, strongly suggesting a founder effect. Our results reinforce the distinct orofacial features of ERS, which are the clue for kidney examination and genetic testing. Early diagnosis is essential to minimize the deleterious effects related to ERS. Here we report the largest series of patients with ERS in the same population, and describe, for the first time, a founder mutation for FAM20A.

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Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes

Cited by 23 publications

References 26 publications

Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión

Caracterización fenotípica del síndrome amelogénesis imperfecta–nefrocalcinosis: una revisión

Enamel Renal Syndrome: A Scoping Review Protocol

Enamel Renal Syndrome: A Novel Homozygous Fam20a Founder Mutation in 5 New Brazilian Families

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