Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
Am J Med Genet
; 93(2): 85-8, 2000 Jul 17.
Article
em En
| MEDLINE
| ID: mdl-10869107
ABSTRACT
The CHARGE syndrome comprises ocular coloboma, heart malformation, choanal atresia, retarded growth and development, central nervous system malformations, genital hypoplasia, ear abnormalities, or deafness. The cause of the CHARGE syndrome remains unknown. In the present study, we analyzed the distribution pattern of the PAX2 gene in human embryos and found that PAX2 gene expression occurs in the primordia affected in the CHARGE syndrome. These data prompted us to consider the PAX2 gene a candidate gene in the CHARGE "association." We analyzed the PAX2 gene in 34 patients fulfilling the diagnostic criteria of the CHARGE syndrome for deletion and nucleotidic variations of the coding sequence and identified only polymorphisms. Our data suggest that mutation of the PAX2 gene is not a cause of the CHARGE association. However, the pattern of expression of PAX2 suggests that genes encoding downstream targets effectors could be candidate genes for the CHARGE syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Anormalidades Múltiplas
/
Proteínas de Ligação a DNA
/
Embrião de Mamíferos
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
França