Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

Recently, Murray and colleagues identified a common functional variant in an AP-2α binding site within an IRF6 enhancer that showed highly significant linkage disequilibrium with isolated cleft lip, but not with cleft lip and palate or isolated CLP ( 46 ).

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