Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome.
- Author:
Xin-ya DU
1
;
Wei TANG
;
Wei-dong TIAN
;
Xiao-yu LI
;
Lei LIU
;
Xiao-hui ZHENG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Cleft Lip; genetics; Female; Genetic Predisposition to Disease; Humans; Interferon Regulatory Factors; genetics; Male; Mutation; Pedigree
- From: Chinese Journal of Medical Genetics 2006;23(1):82-83
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China.
METHODSThree 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.
RESULTSThree 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.
CONCLUSIONMutations 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.
