Abstract
Van der Woude syndrome (VWS, OMIM 119300) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip, hypodontia, and cleft lip and/or cleft palate. It is the most common form of syndromic orofacial clefting and has very high penetrance with varied expressivity. The disease locus for VWS has been mapped to a 1.6-cM region on 1q32–41 between D1S205 and D1S491. Recently, mutations have been found in the interferon regulatory factor 6 (IRF6) gene in patients with VWS and popliteal pterygium syndrome. To identify novel mutations of IRF6 in VWS patients, we screened four Chinese VWS families in all nine exons and their flanking splice junctions by direct sequencing. We identified three missense mutations and one nonsense mutation in IRF6. Our study further confirmed that IRF6 is essential for craniofacial development.
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Acknowledgements
We thank the patients and their families for their participation in this study. We also thank Dr. Ming Zhang, Dr. Kai Tao, Dr. Zeyuan Zhou, and Dr. Chengjin Li, College of Stomatology, Fourth Military Medical University, for recruiting the VWS families and blood collection, and Dr. Jesse Pang and Xujing Wang for comments. This study was supported by the National High Technology "863" Programs of China and the National Science Fund for Distinguished Young Scholars. The authors declare that they have no competing financial interests.
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X. Wang and J. Liu contributed equally to this work
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Wang, X., Liu, J., Zhang, H. et al. Novel mutations in the IRF6 gene for Van der Woude syndrome. Hum Genet 113, 382–386 (2003). https://doi.org/10.1007/s00439-003-0989-2
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DOI: https://doi.org/10.1007/s00439-003-0989-2