RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.
J Craniofac Surg
; 24(1): 126-9, 2013 Jan.
Article
em En
| MEDLINE
| ID: mdl-23348268
ABSTRACT
The RUNX2 transcription factor regulates osteoblast differentiation. Its absence, as with cleidocranial dysplasia, results in deficient bone formation. However, its excess seems to follow a dose response of over ossification. RUNX2 duplications (3 copies) are exceedingly rare but have been reported to cause craniosynostosis. There are no existing reports of quadruplications (4 copies). We present a case study of a boy with an atypical skull deformity with pan-craniosynostosis whose microarray analysis revealed 4 copies of a 1.24-Mb region from 6p12.3 to 6p21.1 containing the RUNX2 gene. Further characterization of this osteogenic pathway may aid in our understanding of the pathogenesis and subsequent prevention and treatment of syndromic craniosynostosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Craniossinostoses
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Subunidade alfa 1 de Fator de Ligação ao Core
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article