How to Cite this Article: Rutledge KD, Barger C, Grant JH, Robin NH. 2010. IRF6 mutations in mixed isolated familial clefting. Am J Med Genet Part A 152A:3107–3109.
IRF6 mutations in mixed isolated familial clefting†
Article first published online: 16 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3107–3109, December 2010
How to Cite
Rutledge, K. D., Barger, C., Grant, J. H. and Robin, N. H. (2010), IRF6 mutations in mixed isolated familial clefting. Am. J. Med. Genet., 152A: 3107–3109. doi: 10.1002/ajmg.a.33053
- Issue published online: 23 NOV 2010
- Article first published online: 16 NOV 2010
- Manuscript Accepted: 19 JUL 2009
- Manuscript Received: 26 MAY 2009
- oro-facial clefting;
- van der Woude syndrome;
- cleft lip;
- cleft palate
Mutations in the interferon regulatory factor 6 (IRF6) gene are known to cause van der Woude syndrome (VWS), a common syndromic form of oro-facial clefting characterized by the familial occurrence of mixed clefting (cleft lip with or without a cleft palate and cleft palate alone in the same family) and lower lip pits. As lip pits are not present in all cases of VWS, IRF6 mutations can cause a phenotype identical to non-syndromic clefting. However, recent studies failed to identify IRF6 mutations in sporadic and familial non-syndromic clefting, concluding that testing for IRF6 was not warranted for sporadic or familial non-syndromic clefting. Here we report on two families that demonstrate familial mixed clefting in which mutations in IRF6 were identified, suggesting that IRF6 testing does have a role in familial, non-syndromic OFC. © 2010 Wiley-Liss, Inc.