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Background  Interferon Regulatory Factor 6 ( IRF6 ) is a member of the IRF family of transcription factors. It has been suggested to be an important contributor to orofacial development since mutations of the  IRF6  gene has been found in Van der Woude (VWS) and popliteal pterygium syndromes (PPS), two disorders that can present with isolated cleft lip and palate. The association between  IRF6  gene and cleft lip and palate has also been independently replicated in many populations.    Methods  We screened a total of 155 Taiwanese patients with cleft lip with or without cleft palate (CL/P); 31 syndromic (including 19 VWS families), 44 non-syndromic families with at least two affected members, and 80 non-syndromic patients through a combined targeted, polymerase chain reaction (PCR)-based mutation analysis for the entire coding regions of  IRF6  gene.    Results  We found 11 mutations in 57.89% (11/19) of the VWS patients and no  IRF6  mutation in 44 of the non-syndromic multiplex families and 80 non-syndromic oral cleft patients. In this  IRF6  gene screening, five of these mutations (c.290 A>G, p.Tyr97Cys; c.360-375 16 bp deletion, p.Gln120HisfsX24; c.411_412 insA, p.Glu136fsX3; c.871 A>C, p.Thr291Pro; c.969 G>A, and p.Trp323X) have not been reported in the literature previously. Exon deletion was not detected in this series of  IRF6  gene screening.    Conclusions  Our results confirm the crucial role of  IRF6  in the VWS patients and further work is needed to explore for its function in the non-syndromic oral cleft with vary clinical features.

A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts