Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 82-83, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-263846
ABSTRACT
<p><b>OBJECTIVE</b>To identify mutations of interferon regulatory factor 6 (IRF6) gene in Van der Woude syndrome (VWS) patients in China.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Cleft Lip
/
Genetic Predisposition to Disease
/
Asian People
/
Interferon Regulatory Factors
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
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