[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].

Purpose: To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province.
Methods: PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software.
Results: A CGC>TGC(r.279c-->t) transversion of IRF6 was identified in condon 6, showing complete segregation with the disease phenotypes and was resulting in changes of the secondary constructure of IRF6.
Conclusion: VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.