Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.

@article{Salahshourifar2012MutationSO,
  title={Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature.},
  author={Iman Salahshourifar and Wan Azman Wan Sulaiman and Ahmad Sukari Halim and Bin Alwi Zilfalil},
  journal={European journal of medical genetics},
  year={2012},
  volume={55 6-7},
  pages={
          389-93
        }
}

• Iman Salahshourifar, Wan Azman Wan Sulaiman, +1 author Bin Alwi Zilfalil
• Published 2012 in European journal of medical genetics
• DOI:10.1016/j.ejmg.2012.02.006

Non-syndromic oral clefts share the main clinical features of Van der Woude Syndrome (VWS), with the exception of the lower lip pit. Thus, about 15% of VWS cases are indistinguishable from cases with non-syndromic oral clefts. IRF6 mutations are the major cause of VWS; however, variants in this gene show strong association with non-syndromic oral clefts, with a higher increased risk among cases with cleft lip only (CLO). A total of 39 individuals, including 16 patients with CLO and 23 patients… CONTINUE READING

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