Mutations of IRF6 Gene Associated with Van Der Woude Syndrome

methods: Molecular analysis was carried out on DNA extracted from peripheral blood of two patients. The entire IRF6 coding region and exon-intron boundaries were PCR amplified. And the amplification products were submitted to direct sequencing. Data were analyzed using Sequencing Analysis 3.4 software. and the effect of mutation on splicing activity was modeled using Human Splicing Finder website.

results: Screening of the IRF6 in one patient showed the presence of a G to C transition at the first base of the 3' splice site of intron 3. The same mutation was observed in the patient's brother with bilateral fistulae of the lower lip and in one healthy brother. The other patient's brothers without clinical pathological signs all showed wild type IRF6 sequence. Analysis of IRF6 gene in the second patient detected a G to T transition at the 5' splice site of intron 8.

conclusions: Different studies showed an association between VWS and IRF6 gene, that encodes for a protein that belongs to a family of transcription factors. In this study we reported the results from screening mutations IRF6 gene analysis. Variations observed involved two different slice sites and caused the production of an alterated protein with a functional disruption of DNA-binding domain and SMIR domain.