title: A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.
abstract: 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.
authors.affiliation: Department of Medical Research, Chang Gung Memorial Hospital, No. 5, Fushing Street, Kweishan, Taoyuan, Taiwan. yhwc8876@gmail.com
authors.forename: Yah-Huei
authors.initials: YH
authors.lastname: Wu-Chou
authors.forename: Lun-Jou
authors.initials: LJ
authors.lastname: Lo
authors.forename: Kuo-Ting Philip
authors.initials: KT
authors.lastname: Chen
authors.forename: Chun-Shin Frank
authors.initials: CS
authors.lastname: Chang
authors.forename: Yu-Ray
authors.initials: YR
authors.lastname: Chen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003560:Cysts / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008046:Lip / Q000002:abnormalities; D008297:Male; D009154:Mutation; D013624:Taiwan
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors