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
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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.
Here, we describe a familial case with a novel IRF6 mutation segregating in the maternal line, displaying a highly intrafamilial variable clinical expression.
This report emphasizes the role of the clinician in recognizing the clinical variability and the genetic heterogeneity of CL/P.
- 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
European Journal of Pediatrics
Volume 169, Issue 2 , pp 223-228
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- Cleft lip
- Cleft palate
- Van der Woude syndrome
- IRF6 gene
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- Author Affiliations
- 1. Department of Pediatrics, University of Torino, Piazza Polonia, 94-10126, Torino, Italy
- 2. Department of Internal Medicine, Cardioangiology and Hepatology, University of Bologna, Bologna, Italy
- 3. Unit of Pediatric Plastic Surgery, Regina Margherita Children’s Hospital, Torino, Italy