[Source:  Science Daily]

An international team led by researchers from Karolinska Institutet has identified a new gene related to the Van der Woude syndrome, the most common syndrome with cleft lip and palate. The study is published in the scientific periodical American Journal of Human Genetics and can lead the way to improved genetic diagnostic of individuals and families with orofacial clefts.
Cleft lip and palate is one of the most common birth defects and can be found in the form of cleft lip or cleft palate alone; or cleft lip and palate together. They may occur together with other malformations, forming a syndrome. There are more than 350 syndromes with clefts, of which Van der Woude syndrome (VWS) is the most common. Approximately 70 per cent of the individuals with VWS have a mutation in a gene called interferon regulatory factor 6 (IRF6).
Now, through an international collaboration between researchers from Sweden, USA, Finland and Israel, a second gene related to VWS has been found. The researchers started by doing a so called genetic linkage study of a large family from Finland. The family had been diagnosed with VWS, albeit no IRF6 mutations had been found. By comparing the DNA of affected individuals with DNA from healthy family members, the researchers identified another gene, called Grainy-head like 3 (GRHL3), which was mutated only in the affected family members. The same gene was found to be altered in 7 additional families with VWS where no IRF6 mutations had been found previously.
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