A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita
Genet. mol. res. (Online)
; 6(2): 277-283, 2007. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-482043
Biblioteca responsável:
BR1.1
ABSTRACT
Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptomatic during infancy. Molecular analysis was able to detect a novel mutation in exon 1 of the DAX1 gene, consisting of a transition of C to T at position 359, determining a stop codon at position 359 (Q359X). The mutated gene encodes a truncated protein missing a large portion of the ligand-binding domain (C-terminal domain). The recognition of the disease in the index case suggested the diagnosis in the other siblings. Interestingly, the same mutation is presented with different phenotypes, suggesting that first-degree family members of patients with DAX1 mutations should be carefully evaluated routinely.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Proteínas Repressoras
/
Mutação Puntual
/
Receptores do Ácido Retinoico
/
Insuficiência Adrenal
/
Códon sem Sentido
/
Proteínas de Ligação a DNA
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Santa Casa de São Paulo/BR