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.
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.
Authors: Rachel L Badovinac; Martha M Werler; Paige L Williams; Karl T Kelsey; Catherine Hayes Journal: Birth Defects Res A Clin Mol Teratol Date: 2007-01
Authors: Astanand Jugessur; Fedik Rahimov; Rolv T Lie; Allen J Wilcox; Håkon K Gjessing; Roy M Nilsen; Truc Trung Nguyen; Jeffrey C Murray Journal: Genet Epidemiol Date: 2008-07 Impact factor: 2.135
Authors: Shinji Kondo; Brian C Schutte; Rebecca J Richardson; Bryan C Bjork; Alexandra S Knight; Yoriko Watanabe; Emma Howard; Renata L L Ferreira de Lima; Sandra Daack-Hirsch; Achim Sander; Donna M McDonald-McGinn; Elaine H Zackai; Edward J Lammer; Arthur S Aylsworth; Holly H Ardinger; Andrew C Lidral; Barbara R Pober; Lina Moreno; Mauricio Arcos-Burgos; Consuelo Valencia; Claude Houdayer; Michel Bahuau; Danilo Moretti-Ferreira; Antonio Richieri-Costa; Michael J Dixon; Jeffrey C Murray Journal: Nat Genet Date: 2002-09-03 Impact factor: 38.330