Study On The Relationship Between The Phenotypes And IRF6 Gene In Van Der Woude Syndrome And Association Analysis Of IRF6 G820A Polymorphism And Nonsydromic Cleft Lip/palate

Van der Woude syndrome (VWS, OMIM 119300) is a dominantly inherited, developmental disorder that is characterized by pits and/or sinuses of the lower lip and a cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene (IRF6) have been recently identified in patients with VWS with more than 60 mutations reported. However, the VWS phenotype, IRF6 mutation genotypes, and their interrelationships in Chinese VWS patients have not been studied.And the relationship between Chinese CL/P patients and IRF6 G820A polymorphism is still unknown.Here, the study reported fourteen Chinese families with variable clinical phenotypes of VWS. These families were screened to determine the prevalence of IRF6 as a disease-causing gene and analyzed the interrelationships between patient phenotype and mutation. Fourteen Chinese VWS families were screened. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing. Four family members in VWS9 were screened for mutation in MSX1. After amplification of MSX1 exons 1 and 2 their flanking splice junctions by polymerase chain...