Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification

Non-sy ndromic craniosy nostoses (NSC) occur as isolated skull malf ormations due to the premature ossif ication of one (single suture f orms) or more (complex f orms) calv arial sutures and represent the most f requent f orm of craniosy nostosis worldwide. The etiology of NSC is still largely unknown, as a genetic basis can be rarely demonstrated especially in single-suture f orms. In these cases, during the prenatal/perinatal dev elopment of af f ected patients, only one suture undergoes a premature direct ossif ication within an otherwise phy siologically grown skull. This could suggest that def inite somatic alterations, possibly due to unclear env ironmental agents, occur locally at the site of premature suture f usion during skull dev elopment. A promising tool to inv estigate the molecular mechanisms that may orchestrate this ev ent is the comparativ e analy sis of suture- and sy nostosis-deriv ed tissues and cells. Particularly , this rev iew will f ocus on the dif f erent studies that attempted to clarif y this issue using genome-wide microarray -based technologies f or the comparativ e analy sis of gene expression prof iles. All relev ant results will be comprehensiv ely rev iewed, possibly compared and critically discussed.