A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
Eur J Pediatr
; 169(2): 223-8, 2010 Feb.
Article
em En
| MEDLINE
| ID: mdl-19536562
ABSTRACT
BACKGROUND:
Orofacial clefts are common congenital malformations usually characterized by a multifactorial etiology. These heterogeneous defects comprise cleft lip (CL), CL with cleft palate (CL/P), and cleft palate, sometimes observed in recognizable syndromes, with mendelian, chromosomal, or environmental pathogenesis. The Van der Woude syndrome is a mendelian CL/P, accounting for about 2% of all cases and caused by mutations in the interferon regulatory factor 6 (IRF6) gene, located on 1q32.2 chromosome.OBJECTIVE:
Here, we describe a familial case with a novel IRF6 mutation segregating in the maternal line, displaying a highly intrafamilial variable clinical expression.CONCLUSION:
This report emphasizes the role of the clinician in recognizing the clinical variability and the genetic heterogeneity of CL/P.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 1
/
DNA
/
Fenda Labial
/
Fissura Palatina
/
Predisposição Genética para Doença
/
Fatores Reguladores de Interferon
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article