Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome

Kim,Youngho; Park,Jung-Young; Lee,Tak-Jong; Yoo,Han-Wook

doi:10.3892/ijmm.12.4.465

October 2003 Volume 12 Issue 4

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October 2003 Volume 12 Issue 4

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Article

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome

Authors:
- Youngho Kim
- Jung-Young Park
- Tak-Jong Lee
- Han-Wook Yoo
View Affiliations / Copyright

Affiliations: Genome Research Center for Birth Defects and Genetic Disorders, Ulsan University of College of Medicine, Asan Medical Center, Seoul, Korea
Pages: 465-468
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Published online on: October 1, 2003

https://doi.org/10.3892/ijmm.12.4.465
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Abstract

Van der Woude syndrome (VWS) is the most common autosomal dominant disorder with characteristic lip pits and clefts of the lip and/or palate (CL/P). The interferon regulatory factor 6 gene (IRF6) has been recently identified as the gene mutated in patients with VWS. Here, we report two novel mutations of IRF6 in two unrelated Korean families with VWS. A frame-shift mutation, 399delC, was identified from a family showing complete cleft lip and palate with a lower lip pit in an affected daughter. Her father, carrying the same mutation, showed bifid uvula with a pit on his lower lip. This mutation causes a frame-shift at pro133 and a premature termination at codon 165. The second mutation, G74C, was detected from an affected son and his mother, both suffered from bilateral cleft lip and palate with pits on the lower lip. This G74C mutation substitutes an alanine for a glycine at codon 25 in the DNA-binding domain. Both mutations are presumably expected to disturb the transcription regulatory function of IRF6. Our findings further confirm that the mutated IRF6 gene is associated with impaired morphogenesis of the lip and palate in a dominant-negative manner.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome

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