Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.
Clin Genet
; 56(1): 1-9, 1999 Jul.
Article
em En
| MEDLINE
| ID: mdl-10466411
ABSTRACT
Optic nerve coloboma combined with renal disease, also called renal-coloboma syndrome ( # 120330 in McKusick's Mendelian Inheritance in Man Online, OMIM), a relatively recently characterized syndrome, results from autosomal dominant mutations in the PAX2 gene. Although renal-coloboma syndrome involves both ocular and renal anomalies, some patients are affected with vesico-ureteral reflux (VUR), high frequency hearing loss, central nervous system (CNS) anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development. We review here the clinical features of patients with renal-coloboma syndrome and PAX2 mutation. We also review the PAX2 mutations that have been reported to date, and discuss the possible effect of PAX2 mutations on normal development.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Doenças do Nervo Óptico
/
Coloboma
/
Regulação da Expressão Gênica no Desenvolvimento
/
Proteínas de Ligação a DNA
/
Nefropatias
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
Nova Zelândia