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.

Ferrero G.B., Baldassarre G., Panza E., Valenzise M., Pippucci T., Mussa A., et al. (2010). 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, 169, 223-228 [10.1007/s00431-009-1011-3].

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.

PANZA, EMANUELE;PIPPUCCI, TOMMASO;SERI, MARCO;
2010

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.
2010
Ferrero G.B., Baldassarre G., Panza E., Valenzise M., Pippucci T., Mussa A., et al. (2010). 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, 169, 223-228 [10.1007/s00431-009-1011-3].
Ferrero G.B.; Baldassarre G.; Panza E.; Valenzise M.; Pippucci T.; Mussa A.; Pepe E.; Seri M.; Silengo M.C.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/85476
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