TY - JOUR
T1 - Gene expression profiling in human craniosynostoses: a tool to investigate the molecular basis of suture ossification
AU - Bernardini, Camilla
AU - Barba, Marta
AU - Tamburrini, Gianpiero
AU - Massimi, Luca
AU - Di Rocco, Concezio
AU - Michetti, Fabrizio
AU - Lattanzi, Wanda
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Craniosy nostosis
KW - Gene expression prof iling
KW - Microarray analy sis
KW - Craniosy nostosis
KW - Gene expression prof iling
KW - Microarray analy sis
UR - http://hdl.handle.net/10807/20863
U2 - 10.1007/s00381-012-1780-2
DO - 10.1007/s00381-012-1780-2
M3 - Article
SN - 0256-7040
SP - 1295
EP - 1300
JO - CHILDS NERVOUS SYSTEM
JF - CHILDS NERVOUS SYSTEM
ER -