Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
Nat Genet
; 17(3): 285-91, 1997 Nov.
Article
em En
| MEDLINE
| ID: mdl-9354791
ABSTRACT
Opitz syndrome (OS) is an inherited disorder characterized by midline defects including hypertelorism, hypospadias, lip-palate-laryngotracheal clefts and imperforate anus. We have identified a new gene on Xp22, MID1 (Midline 1), which is disrupted in an OS patient carrying an X-chromosome inversion and is also mutated in several OS families. MID1 encodes a member of the B-box family of proteins, which contain protein-protein interaction domains, including a RING finger, and are implicated in fundamental processes such as body axis patterning and control of cell proliferation. The association of MID1 with OS suggests an important role for this gene in midline development.
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Cromossomo X
/
Anormalidades Múltiplas
/
Proteínas Nucleares
/
Proteínas dos Microtúbulos
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article