title: Coding region of IRF6 gene may not be causal for Van der Woude syndrome in cases from India.
abstract: OBJECTIVE
  Evaluation of the IRF6 gene in Van der Woude syndrome cases from an Indian population.
  
  
  METHODS
  Nine affected and four unaffected individuals from seven families with Van der Woude syndrome as well as five normal controls (with no history of Van der Woude or any other congenital malformation and belonging to the same geographical area as the families with Van der Woude syndrome).
  
  
  METHODS
  Direct sequencing of all coding regions and exon-intron boundaries of the IRF6 gene.
  
  
  RESULTS
  Five novel variants: IVS1+3900 A>G, 191 T>C, IVS4+775 C>T, IVS8+218 C>T, 1511 T>A (Ser 416 Arg) and two known variants: IVS6+27 C>G, 1083 G>A (V274I) were detected. Except for one, all were in noncoding regions either in 3'UTR or in introns. There was only one mutation in the coding region, detected in a normal control.
  
  
  CONCLUSIONS
  The present report indicates that point mutations in the coding region of the IRF6 gene may not be a major cause of Van der Woude syndrome in Indian populations.
authors.affiliation: Department of Zoology, Banaras Hindu University, Varanasi, India.
authors.forename: Akhtar
authors.initials: A
authors.lastname: Ali
authors.forename: Subodh Kumar
authors.initials: SK
authors.lastname: Singh
authors.forename: Rajiva
authors.initials: R
authors.lastname: Raman
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics; D000015:Abnormalities, Multiple / Q000235:genetics; D000225:Adenine; D001120:Arginine / Q000235:genetics; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D015331:Cohort Studies; D003596:Cytosine; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006147:Guanine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007194:India; D050835:Interferon Regulatory Factors / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D016366:Open Reading Frames / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D012694:Serine / Q000235:genetics; D013577:Syndrome; D013941:Thymine
chemical_list: D020413:3' Untranslated Regions; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D012694:Serine; D006147:Guanine; D003596:Cytosine; D001120:Arginine; D000225:Adenine; D013941:Thymine