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European collaboration on craniofacial anomalies

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Investigating genetic links to cleft palate

Craniofacial anomalies (CFAs) like orofacial clefting (OFC) are still poorly understood especially at the genetic level.

Health

The EC-funded EUROCRAN project was structured in order to improve the overall understanding and management of a number of craniofacial anomalies. EUROCRAN aimed to capitalise on previous work in this field and set out to conduct surgical trials and also genetic studies in order to identify potential causative genes. The overall aim was to treat but ideally prevent CFAs. Project partner, University of Edinburgh, focused on the study of genetic predisposition to cleft palate and whether specific genes could play a role in the causation of these conditions. The SATB2 gene was identified as potentially being implicated in syndromic cleft palate. The gene encodes a protein of 733 amino acids, showing a high degree of evolutionary conservation, but with an unclear function. The SATB2 gene was identified through the application of an innovative technology, which could pave the way for significant breakthroughs in the field of craniofacial development research. In situ hybridisation in mouse embryos "pinpointed" the developing palate as the expression site of SATB2. It is therefore likely that the SATB2 gene is implicated in the pathogenesis of cleft palate in humans. Researchers are seeking to secure further development support in order to arrive at concrete conclusions regarding the genetic cause of cleft palate. Such development could open the way towards novel diagnostic methods.

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