Objectives: To identify the genetic basis of FGFR and TWIST1 mutation negative syndromic and nonsyndromic craniosynostosis Research Plan: Patient cells from the sutures of FGFR and TWIST1 mutation negative syndromic and nonsyndromic craniosynostosis will be screened for mutations using two genetic approaches. Firstly genomic DNA from the patient cells will be hybridised to Affymetrix snp microarrays to determine copy number variation. Secondly the transcriptome of cranial suture cells will be sequenced using the ABI SOLiD technology to identify high quality snps. If successful this project will identify cryptic cytogenetic or point mutations in critical genes that regulate the morphogenesis of cranial sutures. Relevance to work program: This project is intended to be coordinated with an application from a consortium of European molecular genetics diagnostic laboratories for innovative approaches to mutation identification in genetic disorders.
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