European Journal of Pediatrics

, 169:223 | Cite as

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

  • Giovanni Battista Ferrero
  • Giuseppina Baldassarre
  • Emanuele Panza
  • Mariella Valenzise
  • Tommaso Pippucci
  • Alessandro Mussa
  • Ernesto Pepe
  • Marco Seri
  • Margherita Cirillo Silengo
Original Paper

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 lip Cleft palate Van der Woude syndrome IRF6 gene 

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Giovanni Battista Ferrero
    • 1
  • Giuseppina Baldassarre
    • 1
  • Emanuele Panza
    • 2
  • Mariella Valenzise
    • 1
  • Tommaso Pippucci
    • 2
  • Alessandro Mussa
    • 1
  • Ernesto Pepe
    • 3
  • Marco Seri
    • 2
  • Margherita Cirillo Silengo
    • 1
  1. 1.Department of PediatricsUniversity of TorinoTorinoItaly
  2. 2.Department of Internal Medicine, Cardioangiology and HepatologyUniversity of BolognaBolognaItaly
  3. 3.Unit of Pediatric Plastic SurgeryRegina Margherita Children’s HospitalTorinoItaly

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