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Drugs, Vaccines and Therapeutics
, Genomics, Proteomics and Bioinformatics
by ruth on October 17, 2006
"Put simply, mutations of IRF6 in Van de Woude syndrome make the skin cells too sticky, so they stick to each other and other types of cell much sooner than they should resulting in these facial anomalies," said Professor Dixon.
"This unexpected role for IRF6 in skin development may mean it is involved in other medically important areas of biology such as cancer and wound healing.
Here are the abstracts of the two publications, for your reference:
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch- Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)
In a report, the authors suggest that these findings may lead to gene therapy techniques to treat cleft lip and palate, by targeting these genes during pregnancy. Read the full report from Science Daily.
[Photo: Lucile Packard Children's Hospital]
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Vote for Van der Woude Gene IRF6 Implicated in Skin Differentiation:
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Response from:
shashank
(01/01/10 11:43am)
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Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or cleft lip and palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.
People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.