Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
Am J Hum Genet
; 84(3): 406-11, 2009 Mar.
Article
em En
| MEDLINE
| ID: mdl-19249007
ABSTRACT
Cleft lip with or without cleft palate (CL/P) is a complex trait with evidence that the clinical spectrum includes both microform and subepithelial lip defects. We identified missense and nonsense mutations in the BMP4 gene in 1 of 30 cases of microform clefts, 2 of 87 cases with subepithelial defects in the orbicularis oris muscle (OOM), 5 of 968 cases of overt CL/P, and 0 of 529 controls. These results provide confirmation that microforms and subepithelial OOM defects are part of the spectrum of CL/P and should be considered during clinical evaluation of families with clefts. Furthermore, we suggest a role for BMP4 in wound healing.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenda Labial
/
Fissura Palatina
/
Proteína Morfogenética Óssea 4
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Child, preschool
/
Humans
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article