Abstract
BackgroundInterferon 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.MethodsWe 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.ResultsWe 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.ConclusionsOur 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.
Highlights
Interferon Regulatory Factor 6 (IRF6) is a member of the IRF family of transcription factors
Of the large number of candidate genes thought to contribute to orofacial clefting, Interferon Regulatory Factor 6 (IRF6) is the only gene that has shown a convincing degree of consistency across studies [10,11]
We screened a total of 155 patients with cleft palate (CL/P); 31 syndromic, 44 non-syndromic families with at least two affected members, and 80 non-syndromic patients through a procedure of mutation analysis for the entire polymerase chain reaction (PCR)-amplified protein coding regions of IRF6
Summary
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. Orofacial clefts are common congenital malformations which require long-term treatment and patient care They are usually classified as either cleft lip with or without cleft palate (CL/P) or cleft palate only (CP), based on differences in embryological development [1,2]. Given the overlapping phenotype of VWS with isolated CL/P, in searching the gene for mutations, nonpathogenic variants in IRF6 gene have been found to be significantly associated with nonsyndromic oral clefting in many different populations and ethnic groups [10,17,18,19,20,21,22,23]
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