title: Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification.
abstract: BACKGROUND
  Non-syndromic craniosynostoses (NSC) occur as isolated skull malformations due to the premature ossification of one (single-suture forms) or more (complex forms) calvarial sutures and represent the most frequent form of craniosynostosis worldwide. The etiology of NSC is still largely unknown as a genetic basis can be rarely demonstrated especially in single-suture forms. In these cases, during the prenatal/perinatal development of affected patients, only one suture undergoes a premature direct ossification within an otherwise physiologically grown skull. This could suggest that definite somatic alterations, possibly due to unclear environmental agents, occur locally at the site of premature suture fusion during skull development. A promising tool to investigate the molecular mechanisms that may orchestrate this event is the comparative analysis of suture- and synostosis-derived tissues and cells.
  
  
  OBJECTIVE
  This review focuses on the different studies that attempted to clarify this issue using genome-wide microarray-based technologies for the comparative analysis of gene expression profiles. All relevant results have been comprehensively reviewed, possibly compared, and critically discussed.
  
  
  CONCLUSIONS
  Due to the heterogeneity of the dataset available in the literature, a univocal CRS-associated molecular profile could not be deciphered. Most differentially expressed genes are found in different studies to be involved in extracellular matrix remodeling.
authors.affiliation: Institute of Anatomy and Cell Biology, Università Cattolica del Sacro Cuore, Largo F. Vito, 1, 00168, Rome, Italy.
authors.forename: Camilla
authors.initials: C
authors.lastname: Bernardini
authors.forename: Marta
authors.initials: M
authors.lastname: Barba
authors.forename: Gianpiero
authors.initials: G
authors.lastname: Tamburrini
authors.forename: Luca
authors.initials: L
authors.lastname: Massimi
authors.forename: Concezio
authors.initials: C
authors.lastname: Di Rocco
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Michetti
authors.forename: Wanda
authors.initials: W
authors.lastname: Lattanzi
mesh_terms: D003398:Craniosynostoses / Q000235:genetics* / Q000378:metabolism*; D015870:Gene Expression / Q000502:physiology*; D020869:Gene Expression Profiling; D006801:Humans; D046228:Microarray Analysis