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Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2019 Nov; Vol. 62 (11), pp. 103561. Date of Electronic Publication: 2018 Oct 28. - Publication Year :
- 2019
-
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&#95;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.<br /> (Copyright © 2018 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Adolescent
Adult
Amelogenesis Imperfecta epidemiology
Amelogenesis Imperfecta pathology
Brazil epidemiology
Child
Exons genetics
Female
Founder Effect
Frameshift Mutation genetics
Homozygote
Humans
Kidney metabolism
Kidney pathology
Male
Nephrocalcinosis epidemiology
Nephrocalcinosis pathology
Pedigree
Sequence Deletion genetics
Young Adult
Amelogenesis Imperfecta genetics
Dental Enamel Proteins genetics
Genetics, Population
Nephrocalcinosis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 62
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 30394349
- Full Text :
- https://doi.org/10.1016/j.ejmg.2018.10.013