| Full text | |
| Author(s): |
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]
Total Authors: 8
|
| Affiliation: | [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
Total Affiliations: 3
|
| Document type: | Journal article |
| Source: | EUROPEAN JOURNAL OF MEDICAL GENETICS; v. 62, n. 11 NOV 2019. |
| Web of Science Citations: | 0 |
| 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. (AU) | |
| FAPESP's process: | 09/54068-0 - Acquisition of a capillary sequencer to meet the DNA sequencing needs of the professors and researchers at the State University of Campinas Faculty of Dentistry of Piracicaba |
| Grantee: | Ricardo Della Coletta |
| Support Opportunities: | Multi-user Equipment Program |