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


CONCLUSIONS
VWS is caused by mutations in IRF6 gene, and IRF6 is closely related to the development of lip, palate and tooth.
Wang
Xiao-fang
XF
School of Stomatology, Fourth Military Medical University, Xi'an, China. xiaofangwang18@163.com
Xiao
Ming-zhen
MZ
Shi
Jun-nan
JN
Zhang
Hai-bing
HB
Hu
Lan-dian
LD
Kong
Xiang-yin
XY
D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003560:Cysts / Q000235:genetics*; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities*; D009154:Mutation; D010641:Phenotype
C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors