Artículos de revistas
Enamel-renal Syndrome In 2 Patients With A Mutation In Fam20 A And Atypical Hypertrichosis And Hearing Loss Phenotypes
Registro en:
Oral Surgery Oral Medicine Oral Pathology Oral Radiology. Elsevier Science Inc, v. 123, p. 229 - +, 2017.
2212-4403
1528-395X
WOS:000397025400014
10.1016/j.oooo.2016.09.226
Autor
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
Institución
Resumen
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) 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. 123 2 229 + Fundacao de Amparo a Pesquisa do Estado de Minas Gerais, Belo Horizonte, Brazil Conselho Nacional de Desenvolvimento Cientifico e Tecnologico, Brazil Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)