[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome].
OBJECTIVE
To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China.


METHODS
Three Chinese VWS families were screened to IRF6 gene mutation via PCR and sequence techniques. After amplification of exons 1-8 and their flanking splice junctions and part of exon 9 of the IRF6 gene by polymerase chain reaction, mutations were detected by direct sequencing.


RESULTS
Three novel mutations, one in each family, were identified in all the affected members in the three families. There were one missense mutation 1214 (T-->C) in exon 9, two nonsense mutations 981 (T-->A) in exon 7 and 1234 (C-->T) in exon 9. All affected members of the three families were heterozygous for their respective mutation.


CONCLUSIONS
Mutations in IRF6 gene were found in all VWS patients. This observation supports the hypothesis that IRF6 is the gene responsible for VWS across different populations.
Du
Xin-ya
XY
Department of Oral and Maxillofacial Surgery, West China College of Stomatology, Sichuan University, Chengdu, Sichuan 610041, P.R.China.
Tang
Wei
W
Tian
Wei-dong
WD
Li
Xiao-yu
XY
Liu
Lei
L
Zheng
Xiao-hui
XH
D044466:Asian People / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree
C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors