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Type: Artigo de periódico
Title: Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome
Author: Paranaiba, LMR
Martelli, H
Swerts, MSO
Line, SRP
Coletta, RD
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 (520deIG), 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.
Subject: Van der Woude syndrome
interferon regulatory factor 6 gene
Country: Grécia
Editor: Professor D A Spandidos
Citation: International Journal Of Molecular Medicine. Professor D A Spandidos, v. 22, n. 4, n. 507, n. 511, 2008.
Rights: embargo
Identifier DOI: 10.3892/ijmm_00000049
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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