Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.
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.
Paranaíba
Lívia Máris Ribeiro
LM
Department of Oral Diagnosis, School of Dentistry, State University of Campinas, CEP 13414-018 Piracicaba, São Paulo, Brazil.
Martelli-Júnior
Hercílio
H
Oliveira Swerts
Mário Sergio
MS
Line
Sergio R P
SR
Coletta
Ricardo D
RD
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
C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D013912:Threonine; D000409:Alanine