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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Authors
  • Dourado, Mauricio Rocha1
  • Dos Santos, Cássio Roberto Rocha2
  • Dumitriu, Simona3
  • Iancu, Daniela3
  • Albanyan, Saleh3
  • Kleta, Robert3
  • Coletta, Ricardo D4
  • Marques Mesquita, Ana Terezinha2
  • 1 Department of Dentistry, Federal University of Jequitinhonha and Mucuri Valleys, UFVJM, Brazil; Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas, UNICAMP, Brazil. Electronic address: [email protected] , (Brazil)
  • 2 Department of Dentistry, Federal University of Jequitinhonha and Mucuri Valleys, UFVJM, Brazil. , (Brazil)
  • 3 Center for Nephrology, University College London, United Kingdom. , (United Kingdom)
  • 4 Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas, UNICAMP, Brazil. , (Brazil)
Type
Published Article
Journal
European journal of medical genetics
Publication Date
Nov 01, 2019
Volume
62
Issue
11
Pages
103561–103561
Identifiers
DOI: 10.1016/j.ejmg.2018.10.013
PMID: 30394349
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Enamel renal syndrome (ERS) is a rare autosomal recessive disorder 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 mutation 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)], was 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 a same population, and describe, for the first time, a founder mutation for FAM20A. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

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