Today, 1 in 700 babies in the UK are born with a cleft lip and palate. Despite it being one of the most common birth defects, surprisingly little is understood about the underlying causes of cleft lip and palate. We still do not know very much about why they occur although we think it is likely to be a combination of genetic and environmental factors. We do know it is a failure of joining up and we know some of the causes (such as the tongue preventing the two halves of the palate from joining) but in most cases there is no obvious explanation. We also know that the gene involved in Van de Woude syndrome (a cleft-related condition) has already been identified. CLEFT has funded research into another gene which can cause cleft palate – TBX22.

The aim of this CLEFT funded study is to understand which genes or genetic changes causes cleft lip and palate. We are doing this by studying large families, where more than one family member has a cleft, to see what is commonly inherited.

More work needs to be done to fully understand the role of this gene in the development of the palate. This should mean that in the future we can use this knowledge to identify babies at risk and, if necessary, intervene before birth to prevent clefts occurring.

Click on the link to read about the FOXF2 gene discovery, found in a family of seven generations in Egypt.