title: Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.
abstract: Van der Woude Syndrome (VWS) is an autosomal craniofacial disorder characterized by lower lip pits and cleft lip and/or palate. Mutations in the interferon regulatory factor 6 (IRF6) gene have been identified in patients with VWS. To identify novel IRF6 mutations in patients affected by VWS, we screened 2 Brazilian families, sequencing the entire IRF6-coding region and flanking intronic boundaries. Two novel heterozygous mutations were identified: a frame shift mutation with deletion of G at the nucleotide position 520 in the exon 6 (520delG), and a missense single nucleotide substitution from T to A at nucleotide position 1135 in exon 8 (T1135A). By using restriction enzyme analysis, we were able to demonstrate the lack of similar mutations in unrelated healthy individuals and non-syndromic cleft lip and palate patients. Our results further confirmed that haploinsufficiency of the IRF6 gene results in VWS.
authors.affiliation: Department of Oral Diagnosis, School of Dentistry, State University of Campinas, CEP 13414-018 Piracicaba, São Paulo, Brazil.
authors.forename: Lívia Máris Ribeiro
authors.initials: LM
authors.lastname: Paranaíba
authors.forename: Hercílio
authors.initials: H
authors.lastname: Martelli-Júnior
authors.forename: Mário Sergio
authors.initials: MS
authors.lastname: Oliveira Swerts
authors.forename: Sergio R P
authors.initials: SR
authors.lastname: Line
authors.forename: Ricardo D
authors.initials: RD
authors.lastname: Coletta
mesh_terms: D000409:Alanine / Q000235:genetics; D044467:American Indian or Alaska Native / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D001938:Brazil; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005190:Family; D006801:Humans; D050835:Interferon Regulatory Factors / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D015183:Restriction Mapping; D013577:Syndrome; D013912:Threonine / Q000235:genetics
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D013912:Threonine; D000409:Alanine