Mutations in IRF6
cause Van der Woude and popliteal pterygium syndromes.
Moretti et al., "Developmental factor IRF6
exhibits tumor suppressor activity in squamous cell carcinomas," Proceedings of the National Academy of Sciences of the United States of America, vol.
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6
Considering the influences on IFN immune response and cytokines signaling pathway of IRFs genes, IRF6
could be an important candidate gene for porcine immune response and disease susceptibility, we also further performed an association analysis between the SNPs of the IRF6
gene and immune traits (IFN-[gamma], IL-10 and IFN-[gamma]/IL-10) in serum to estimate their possible effects in pigs.
"We had previously shown that a mutation in the IRF6
gene causes Van der Woude syndrome, a rare inherited form of cleft lip and palate," said Professor Mike Dixon.
Genetic mutations have been found in MSX1; in interferon regulatory factor-6 (IRF6
), a cause of Van der Woude's syndrome; and in fibroblast growth factor receptor 1 (FGFR1), which is associated with Kallmann syndrome.
Scientists have discovered that errors in the IRF6
gene are responsible for Van der Woude syndrome, which causes severe facial disfigurement.
To date, more than 300 genes have been found to be involved in tooth development, but only a few of these genes, such as MSX1, PAX9, AXIN2, WNT10A, TGFA, IRF6
, MMP1, MMP20 and EDA are directly involved in tooth genesis2,13,14.