Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.
Oral Surg Oral Med Oral Pathol Oral Radiol
; 123(2): 229-234.e2, 2017 Feb.
Article
em En
| MEDLINE
| ID: mdl-28086997
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas do Esmalte Dentário
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Amelogênese Imperfeita
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Perda Auditiva
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Mutação
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Nefrocalcinose
Tipo de estudo:
Risk_factors_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article