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IRF6 mutations in mixed isolated familial clefting
Author(s) -
Rutledge Katherine D.,
Barger Christina,
Grant John H.,
Robin Nathaniel H.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33053
Subject(s) - genetics , medicine , biology
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.