[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].Shanghai Kou Qiang Yi Xue. 2005 Jun; 14(3):234-7.SK
To investigate IRF6 gene mutation in a van Der Woude syndrome (VWS) family in Henan province.
PCR and DNA sequencing was employed to detect the mutation of IRF6.Secondary construction transformation analysis was performed using PIX-Protein Identification software.
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.
VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.