Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/328957
Type: Artigo
Title: Enamel-renal Syndrome In 2 Patients With A Mutation In Fam20 A And Atypical Hypertrichosis And Hearing Loss Phenotypes
Author: Pego
Sabina Pena B.; Coletta
Ricardo D.; Dumitriu
Simona; Iancu
Daniela; Albanyan
Saleh; Kleta
Robert; Auricchio
Maria Teresa; Santos
Luis Antonio; Rocha
Breno; Martelli-Junior
Hercilio
Abstract: Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m.A1555 G mutation), were not found. These results suggest a putative function of FAM20 A in the development of the inner ear and in the formation of hair. The presence of nephrocalcinosis is a risk factor for renal impairment, and it is important to perform regular renal monitoring in order to avoid renal failure.
Subject: Amelogenesis Imperfecta
Gingival Fibromatosis
Family
Nephrocalcinosis
Siblings
Deafness
Disease
Editor: Elsevier Science Inc
New York
Rights: fechado
Identifier DOI: 10.1016/j.oooo.2016.09.226
Address: http://www.oooojournal.net/article/S2212-4403(16)30614-9/references
Date Issue: 2017
Appears in Collections:Unicamp - Artigos e Outros Documentos

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