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Transcription profiling of human scalp fibroblasts in four craniosynostosis disease groups

ABSTRACT: Comparison of four craniosynostosis disease groups of 10 samples each: Apert syndrome (AS), Muenke syndrome (MS), Saetre-Chotzen syndrome (SCS), and non-syndromic craniosynostosis (NSS).

ORGANISM(S): Homo sapiens

DISEASE(S): Apert syndrome

SUBMITTER: Elena Bochukova

PROVIDER: E-MEXP-2236 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

Bochukova Elena G EG Soneji Shamit S Wall Steven A SA Wilkie Andrew O M AO

Journal of medical genetics 20090915 12

<h4>Background</h4>Craniosynostosis can be caused by both genetic and environmental factors, the relative contributions of which vary between patients. Genetic testing identifies a pathogenic mutation or chromosomal abnormality in ∼ 21% of cases, but it is likely that further causative mutations remain to be discovered.<h4>Objective</h4>To identify a shared signature of genetically determined craniosynostosis by comparing the expression patterns in three monogenic syndromes with a control group ...[more]

PMID: 19755431

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