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IRF6 mutations in mixed isolated familial clefting

Authors

  • Katherine D. Rutledge,

    1. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
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  • Christina Barger,

    1. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
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  • John H. Grant,

    1. Department of Surgery, Division of Plastic Surgery, University of Alabama at Birmingham, Birmingham, Alabama
    2. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama
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  • Nathaniel H. Robin

    Corresponding author
    1. Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
    2. Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama
    • Kaul 210, 1530 3rd Av. So., Birmingham, AL 35294-0024.
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  • 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.

Abstract

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.

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