Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome

  • Authors:
    • Lívia Máris Ribeiro Paranaíba
    • Hercílio Martelli-Júnior
    • Mário Sergio Oliveira Swerts
    • Sergio R.P. Line
    • Ricardo D. Coletta
  • View Affiliations

  • Published online on: October 1, 2008     https://doi.org/10.3892/ijmm_00000049
  • Pages: 507-511
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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.

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October 2008
Volume 22 Issue 4

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Paranaíba LM, Martelli-Júnior H, Oliveira Swerts MS, Line SR and Coletta RD: Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome. Int J Mol Med 22: 507-511, 2008
APA
Paranaíba, L.M., Martelli-Júnior, H., Oliveira Swerts, M.S., Line, S.R., & Coletta, R.D. (2008). Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome. International Journal of Molecular Medicine, 22, 507-511. https://doi.org/10.3892/ijmm_00000049
MLA
Paranaíba, L. M., Martelli-Júnior, H., Oliveira Swerts, M. S., Line, S. R., Coletta, R. D."Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome". International Journal of Molecular Medicine 22.4 (2008): 507-511.
Chicago
Paranaíba, L. M., Martelli-Júnior, H., Oliveira Swerts, M. S., Line, S. R., Coletta, R. D."Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome". International Journal of Molecular Medicine 22, no. 4 (2008): 507-511. https://doi.org/10.3892/ijmm_00000049