Ghassibe-Sabbagh et al. (2011) screened the FAF1 gene in a cohort of 228 individuals with clefts, including 14 patients with van der Woude syndrome (119300) in whom mutation in the IRF6 gene (607199) had been excluded, 34 patients ... Ghassibe-Sabbagh et al. (2011) screened the FAF1 gene in a cohort of 228 individuals with clefts, including 14 patients with van der Woude syndrome (119300) in whom mutation in the IRF6 gene (607199) had been excluded, 34 patients with Pierre Robin syndrome, 65 patients with CPO, and 115 with CL/P, but did not find any changes significantly associated with clefts. In addition, analysis of SNPs did not reveal any copy number variation at 1p34 in 140 cleft patients. However, using quantitative RT-PCR on peripheral blood lymphocytes from 9 cleft patients and 2 controls, Ghassibe-Sabbagh et al. (2011) found a significant decrease in FAF1 expression in CPO and CL/P patients (p = 0.0015 and p = 0.01, respectively) compared to controls. Genotyping the patients for dbSNP rs3827730 revealed an enrichment of the T allele (75% of alleles in CPO patients and 60% of alleles in CL/P patients).