| Texto completo | |
| Autor(es): |
Dourado, Mauricio Rocha
[1, 2]
;
Rocha dos Santos, Cassio Roberto
[1]
;
Dumitriu, Simona
[3]
;
Iancu, Daniela
[3]
;
Albanyan, Saleh
[3]
;
Kleta, Robert
[3]
;
Coletta, Ricardo D.
[2]
;
Marques Mesquita, Ana Terezinha
[1]
Número total de Autores: 8
|
| Afiliação do(s) autor(es): | [1] Fed Univ Jequitinhonha & Mucuri Valleys, Dept Dent, UFVJM, Diamantina, MG - Brazil
[2] Univ Estadual Campinas, Dept Oral Diag, Piracicaba Dent Sch, UNICAMP, Piracicaba, SP - Brazil
[3] UCL, Ctr Nephrol, London - England
Número total de Afiliações: 3
|
| Tipo de documento: | Artigo Científico |
| Fonte: | EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 62, n. 11 NOV 2019. |
| Citações Web of Science: | 0 |
| Resumo | |
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. (AU) | |
| Processo FAPESP: | 09/54068-0 - EMU: aquisição de sequenciador capilar para atender a demanda de sequenciamento de DNA dos projetos dos professores / pesquisadores da FOP-UNICAMP |
| Beneficiário: | Ricardo Della Coletta |
| Modalidade de apoio: | Auxílio à Pesquisa - Programa Equipamentos Multiusuários |