A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts

Yah Huei Wu-Chou, Lun Jou Lo, Kuo Ting Philip Chen, Chun Shin Frank Chang, Yu Ray Chen

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

Background: Interferon Regulatory Factor 6 (IRF6) is a member of the IRF family of transcription factors. It has been suggested to be an important contributor to orofacial development since mutations of the IRF6 gene has been found in Van der Woude (VWS) and popliteal pterygium syndromes (PPS), two disorders that can present with isolated cleft lip and palate. The association between IRF6 gene and cleft lip and palate has also been independently replicated in many populations.Methods: We screened a total of 155 Taiwanese patients with cleft lip with or without cleft palate (CL/P); 31 syndromic (including 19 VWS families), 44 non-syndromic families with at least two affected members, and 80 non-syndromic patients through a combined targeted, polymerase chain reaction (PCR)-based mutation analysis for the entire coding regions of IRF6 gene.Results: We found 11 mutations in 57.89% (11/19) of the VWS patients and no IRF6 mutation in 44 of the non-syndromic multiplex families and 80 non-syndromic oral cleft patients. In this IRF6 gene screening, five of these mutations (c.290 A>G, p.Tyr97Cys; c.360-375 16 bp deletion, p.Gln120HisfsX24; c.411_412 insA, p.Glu136fsX3; c.871 A>C, p.Thr291Pro; c.969 G>A, and p.Trp323X) have not been reported in the literature previously. Exon deletion was not detected in this series of IRF6 gene screening.Conclusions: Our results confirm the crucial role of IRF6 in the VWS patients and further work is needed to explore for its function in the non-syndromic oral cleft with vary clinical features.

Original languageEnglish
Article number37
JournalBMC Medical Genetics
Volume14
Issue number1
DOIs
Publication statusPublished - Mar 20 2013
Externally publishedYes

Keywords

  • IRF6 gene
  • Mutation analyses
  • Orofacial clefts

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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