Clinical and genetic features of Chinese kindreds with Van der Woude syndrome caused by interferon regulatory factor 6 mutation / 华西口腔医学杂志

OBJECTIVE@#This study aimed to investigate the clinical phenotype and genetic characteristics of Chinese families with Van der Woude syndrome (VWS).@*METHODS@#Clinical manifestations between 14 families and within each family were recorded. Possible inheritance modes and pathogenic genes were analyzed. Phenotypic distribution and gene frequencies were calculated.@*RESULTS@#Of the pedigrees investigated, an autosomal dominant inheritance pattern was suggested. All patients had typical symptoms. The pathogenic gene was interferon regulatory factor 6 (IRF6). Phenotypic distribution frequencies were as follows: lip pits (91.9%), cleft lip and/or palate (73.0%), and hyperdontia (8.1%). There were significant differences in clinical phenotypes among individuals of different families and individuals of the same family.@*CONCLUSIONS@#VWS in a Chinese population was dominantly inherited with high penetrance and variable expressivity. The pathogenic gene was IRF6. VWS in a Chinese population was genotyped as VWS1.

Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome / 中华医学遗传学杂志

<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>