Jaw defect genetic model

Using genetic engineering, researchers have developed a model for the birth defect syngnathia, affecting the face and jaw
08 January 2014


Our faces are sculpted in the womb, by cells called neural crest cells coming together and changing into bone, cartilage, nerves and more. Problems with this process lead to facial deformities, which can be extremely serious if they prevent a baby from feeding properly. Writing in the journal PLOS Genetics, a team of US researchers has now created a mouse genetic model that mimics a human condition called syngnathia, where babies are born with fused upper and lower jaws, and other problems with their faces.

The team focused on a gene called Foxc1, which is switched on in neural crest cells in a developing embryo. Using genetic engineering techniques they created mice lacking the Foxc1 gene, and found that the mouse pups had facial deformities that were very similar to those seen in babies with syngnathia.

Although syngnathia is relatively rare, around a third of all birth defects involve the head and face, so the researchers hope their new model will help to shed light on the origins of more common forms of facial deformity too.


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