European Journal of Pediatrics

, 169:223

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

Authors

    • Department of PediatricsUniversity of Torino
  • Giuseppina Baldassarre
    • Department of PediatricsUniversity of Torino
  • Emanuele Panza
    • Department of Internal Medicine, Cardioangiology and HepatologyUniversity of Bologna
  • Mariella Valenzise
    • Department of PediatricsUniversity of Torino
  • Tommaso Pippucci
    • Department of Internal Medicine, Cardioangiology and HepatologyUniversity of Bologna
  • Alessandro Mussa
    • Department of PediatricsUniversity of Torino
  • Ernesto Pepe
    • Unit of Pediatric Plastic SurgeryRegina Margherita Children’s Hospital
  • Marco Seri
    • Department of Internal Medicine, Cardioangiology and HepatologyUniversity of Bologna
  • Margherita Cirillo Silengo
    • Department of PediatricsUniversity of Torino
Original Paper

DOI: 10.1007/s00431-009-1011-3

Cite this article as:
Ferrero, G.B., Baldassarre, G., Panza, E. et al. Eur J Pediatr (2010) 169: 223. doi:10.1007/s00431-009-1011-3

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.

Keywords

Cleft lipCleft palateVan der Woude syndromeIRF6 gene

Copyright information

© Springer-Verlag 2009