The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population

2009 ◽  
Vol 119 (9) ◽  
pp. 1759-1764 ◽  
Author(s):  
Gillian R. Diercks ◽  
Tom T. Karnezis ◽  
David T. Kent ◽  
Carlos Flores ◽  
Gloria H. Su ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Regulatory Factor ◽  
Interferon Regulatory Factor 6

Novel IRF6 Mutations in Chinese Patients with Van der Woude Syndrome

2006 ◽  
Vol 85 (10) ◽  
pp. 937-940 ◽  
Author(s):  
X. Du ◽  
W. Tang ◽  
W. Tian ◽  
S. Li ◽  
X. Li ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Binding Domain ◽  
Chinese Patients ◽  
Regulatory Factor ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Chinese Families ◽  
Interferon Regulatory Factor 6

Van der Woude syndrome (VWS) (OMIM 119300) is a dominantly inherited, developmental disorder that is characterized by pits and/or sinuses of the lower lip and a cleft lip and/or cleft palate. Mutations in the interferon regulatory factor 6 gene ( IRF6) have been recently identified in patients with VWS, with more than 60 mutations reported. However, the VWS phenotype, IRF6 mutation genotypes, and their interrelationships in Chinese VWS patients have not been studied. Here, we report 11 Chinese families with variable clinical phenotypes of VWS and identified mutations in all patients. Of the 11 mutations, 8 appeared to be novel: CC5.6GT, T342A, 566delA, C748T, C756A, C989A, C1209G, and 1316delT. Seven mutations caused a change or loss of the IRF6 domain. The marked phenotypic variation may be caused by the action of certain modifier genes on IRF6 function. Abbreviations: VWS, Van der Woude syndrome; IRF6, interferon regulatory factor 6; CL/P, cleft lip and/or cleft palate; DBD, DNA-binding domain; SMIR, Smad-interferon regulatory factor-binding domain; Kb, kilobase; PCR, polymerase chain-reaction.

scholarly journals Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

2005 ◽  
Vol 13 (11) ◽  
pp. 1239-1242 ◽  
Author(s):  
Michella Ghassibé ◽  
Benedicte Bayet ◽  
Nicole Revencu ◽  
Christine Verellen-Dumoulin ◽  
Yves Gillerot ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Regulatory Factor ◽  
Interferon Regulatory Factor 6 ◽  
Belgian Population

scholarly journals Mutations in P63 and IRF-6 Present with Overlapping Craniofacial Defects: A study from Lebanon

2019 ◽  
pp. 1-3
Author(s):  
Mazen Kurban ◽  
Edgar Jabbour ◽  
Lamiaa Hamie ◽  
Mazen Kurban ◽  
Pamela Kassabian
Keyword(s):  
Transcription Factors ◽  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Craniofacial Development ◽  
Regulatory Factor ◽  
Van Der Woude Syndrome ◽  
Interferon Regulatory Factor 6 ◽  
Cleft Lip Palate ◽  
Exon 9 ◽  
Craniofacial Defects

Interferon Regulatory Factor 6 (IRF-6) and p63 are two vital transcription factors implicated in normal craniofacial development. In this report, we present a family with Van Der Woude Syndrome (VWS) with a mutation in exon 9 of IRF-6 gene and a phenotypically overlapping case of Rapp-Hodgkin Syndrome (RHS) resulting from a mutation in the p63 gene. Members from both families presented with congenital lip pits and cleft lip/palate. The RHS case had additional ectodermal features that underscore the upstream nature of p63 in the complex p63-IRF-6 interactive pathway.

Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate

2004 ◽  
Vol 351 (8) ◽  
pp. 769-780 ◽  
Author(s):  
Theresa M. Zucchero ◽  
Margaret E. Cooper ◽  
Brion S. Maher ◽  
Sandra Daack-Hirsch ◽  
Buena Nepomuceno ◽  
...  
Keyword(s):  
Cleft Lip ◽  
Interferon Regulatory Factor ◽  
Gene Variants ◽  
Regulatory Factor ◽  
Irf6 Gene ◽  
Interferon Regulatory Factor 6
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