title: Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.
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.
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil. Electronic address: sabinapego@yahoo.com.br.
authors.forename: Sabina Pena B
authors.initials: SPB
authors.lastname: Pêgo
authors.affiliation: Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.
authors.forename: Ricardo D
authors.initials: RD
authors.lastname: Coletta
authors.affiliation: Center for Nephrology, University College London, London, United Kingdom.
authors.forename: Simona
authors.initials: S
authors.lastname: Dumitriu
authors.affiliation: Center for Nephrology, University College London, London, United Kingdom.
authors.forename: Daniela
authors.initials: D
authors.lastname: Iancu
authors.affiliation: Center for Nephrology, University College London, London, United Kingdom.
authors.forename: Saleh
authors.initials: S
authors.lastname: Albanyan
authors.affiliation: Center for Nephrology, University College London, London, United Kingdom.
authors.forename: Robert
authors.initials: R
authors.lastname: Kleta
authors.affiliation: Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Biosciences Institute, University of São Paulo, São Paulo, Brazil.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Auricchio
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Luis Antônio
authors.initials: LA
authors.lastname: Santos
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Breno
authors.initials: B
authors.lastname: Rocha
authors.affiliation: Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli-Júnior
mesh_terms: D000567:Amelogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D003746:Dental Enamel Proteins / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics; D009154:Mutation; D009397:Nephrocalcinosis / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011862:Radiography, Panoramic
chemical_list: D003746:Dental Enamel Proteins; C571509:FAM20A protein, human