Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes
Sabina Pena B. Pego, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antonio Santos, Breno Rocha, Hercilio Martelli-Junior
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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...
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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
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CONSELHO NACIONAL DE DESENVOLVIMENTO CIENTÍFICO E TECNOLÓGICO - CNPQ
FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE MINAS GERAIS - FAPEMIG
Fechado
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes
Sabina Pena B. Pego, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antonio Santos, Breno Rocha, Hercilio Martelli-Junior
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes
Sabina Pena B. Pego, Ricardo D. Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antonio Santos, Breno Rocha, Hercilio Martelli-Junior
Fontes
Oral surgery, oral medicine, oral pathology, oral radiology and endodontics (Fonte avulsa) |