Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.

Autor: Pêgo SPB; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil. Electronic address: sabinapego@yahoo.com.br., Coletta RD; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil., Dumitriu S; Center for Nephrology, University College London, London, United Kingdom., Iancu D; Center for Nephrology, University College London, London, United Kingdom., Albanyan S; Center for Nephrology, University College London, London, United Kingdom., Kleta R; Center for Nephrology, University College London, London, United Kingdom., Auricchio MT; Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, Brazil., Santos LA; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil., Rocha B; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil., Martelli-Júnior H; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
Jazyk: angličtina
Zdroj: Oral surgery, oral medicine, oral pathology and oral radiology [Oral Surg Oral Med Oral Pathol Oral Radiol] 2017 Feb; Vol. 123 (2), pp. 229-234.e2. Date of Electronic Publication: 2016 Oct 13.
DOI: 10.1016/j.oooo.2016.09.226
Abstrakt: 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.
(Copyright © 2016 Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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