Enamel-renal Syndrome In 2 Patients With A Mutation In Fam20 A And Atypical Hypertrichosis And Hearing Loss Phenotypes

dc.creatorPego
dc.creatorSabina Pena B.; Coletta
dc.creatorRicardo D.; Dumitriu
dc.creatorSimona; Iancu
dc.creatorDaniela; Albanyan
dc.creatorSaleh; Kleta
dc.creatorRobert; Auricchio
dc.creatorMaria Teresa; Santos
dc.creatorLuis Antonio; Rocha
dc.creatorBreno; Martelli-Junior
dc.creatorHercilio
dc.date2017
dc.datefev
dc.date2017-11-13T13:45:14Z
dc.date2017-11-13T13:45:14Z
dc.date.accessioned2018-03-29T05:59:54Z
dc.date.available2018-03-29T05:59:54Z
dc.identifierOral Surgery Oral Medicine Oral Pathology Oral Radiology. Elsevier Science Inc, v. 123, p. 229 - +, 2017.
dc.identifier2212-4403
dc.identifier1528-395X
dc.identifierWOS:000397025400014
dc.identifier10.1016/j.oooo.2016.09.226
dc.identifierhttp://www.oooojournal.net/article/S2212-4403(16)30614-9/references
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/328957
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1365982
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.descriptionEnamel-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.
dc.description123
dc.description2
dc.description229
dc.description+
dc.descriptionFundacao de Amparo a Pesquisa do Estado de Minas Gerais, Belo Horizonte, Brazil
dc.descriptionConselho Nacional de Desenvolvimento Cientifico e Tecnologico, Brazil
dc.descriptionConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.languageEnglish
dc.publisherElsevier Science Inc
dc.publisherNew York
dc.relationOral Surgery Oral Medicine Oral Pathology Oral Radiology
dc.rightsfechado
dc.sourceWOS
dc.subjectAmelogenesis Imperfecta
dc.subjectGingival Fibromatosis
dc.subjectFamily
dc.subjectNephrocalcinosis
dc.subjectSiblings
dc.subjectDeafness
dc.subjectDisease
dc.titleEnamel-renal Syndrome In 2 Patients With A Mutation In Fam20 A And Atypical Hypertrichosis And Hearing Loss Phenotypes
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución