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

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 rang...

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Bibliographic Details
Published in:European journal of medical genetics 2019-11, Vol.62 (11), p.103561-103561, Article 103561
Main Authors: Dourado, Mauricio Rocha, dos Santos, Cássio Roberto Rocha, Dumitriu, Simona, Iancu, Daniela, Albanyan, Saleh, Kleta, Robert, Coletta, Ricardo D., Marques Mesquita, Ana Terezinha
Format: Article
Language:English
Subjects:
Adolescent
Adult
Amelogenesis imperfecta
Amelogenesis Imperfecta - epidemiology
Amelogenesis Imperfecta - genetics
Amelogenesis Imperfecta - pathology
Brazil - epidemiology
Child
Dental Enamel Proteins - genetics
Exons - genetics
FAM20A
Female
Founder Effect
Frameshift Mutation - genetics
Genetics, Population
Gingival fibromatosis
Homozygote
Humans
Kidney - metabolism
Kidney - pathology
Male
Nephrocalcinosis
Nephrocalcinosis - epidemiology
Nephrocalcinosis - genetics
Nephrocalcinosis - pathology
Pedigree
Sequence Deletion - genetics
Syndrome
Young Adult
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2018.10.013