Genetic screening for IRF6 and GRHL3 in Brazilians with non-syndromic cleft lip/palate

IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip

Cleft lip with or without cleft palate (CL/P) is one of the most common birth defects; it is a multifactorial disease affecting > 1/1,000 live births in Europe, and its etiology is largely unknown, although it is very likely genetic and environmental factors contribute to this malformation. Orofacial development is a complex process involving many genes and signaling pathways. Mutations in the ...

Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

Novel Mutations in IRF6 in Nonsyndromic Cleft Lip With or Without Cleft Palate: When Should IRF6 Mutational Screening be Done? Fernanda Sarquis Jehee, Beatriz A. Burin, K atia M. Rocha, Roseli Zechi-Ceide, Daniela F. Bueno, Luciano Brito, Josiane Souza, Gabriela Ferraz Leal, Antonio Richieri-Costa, Nivaldo Alonso, Paulo A. Otto, and Maria Rita Passos-Bueno* Centro de Estudos do Genoma Humano, D...

Association of single-nucleotide polymorphisms, rs2235371 and rs2013162, in the IRF6 gene with non-syndromic cleft palate in northeast China.

The aim of this study was to determine the association between two SNPs (rs2235371 and rs2013162) in the interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft palate (NSCP) in northeast China. We genotyped these two SNPs in 104 NSCP cases, as well as in 178 parents and 300 controls. Case-control and case-parent analyses were performed using χ2 tests and family-based association tes...

Application of Genetic Analyses in Studies of Syndromic and Non-syndromic Cleft Lip and Palate

Association of polymorphisms of IRF6 to non-syndromic cleft lip with or without palate in a Guangdong population

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is the most common birth defect. The gene interferon regulatory factor 6 (IRF6) is the most studied candidate-cause of clefts of the lip, palate, or both. Variations of IRF6 are associated with ethnicity. We investigated the presence of 8 tag SNPs of IRF6 in residents of Guangdong province: 126 patients with NSCL/P (29 with cleft lip...