title: 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.
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.
  
  
  CONCLUSIONS
  This report emphasizes the role of the clinician in recognizing the clinical variability and the genetic heterogeneity of CL/P.
authors.affiliation: Department of Pediatrics, University of Torino, Piazza Polonia, 94-10126 Torino, Italy. giovannibattista.ferrero@unito.it
authors.forename: Giovanni Battista
authors.initials: GB
authors.lastname: Ferrero
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Baldassarre
authors.forename: Emanuele
authors.initials: E
authors.lastname: Panza
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.forename: Tommaso
authors.initials: T
authors.lastname: Pippucci
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mussa
authors.forename: Ernesto
authors.initials: E
authors.lastname: Pepe
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.forename: Margherita Cirillo
authors.initials: MC
authors.lastname: Silengo
mesh_terms: D000015:Abnormalities, Multiple; D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D050835:Interferon Regulatory Factors / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D010375:Pedigree
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D004247:DNA