The intricate genetics of skull formation
'A program for high throughput molecular diagnostics of the mutation negative syndromic and nonsyndromic craniosynostoses' (Craniotechgene) is a project aiming to identify novel genes that contribute to non-syndromic craniosynostosis (NSC). Using new strategies for identifying copy number variations and next generation sequencing of patient samples, researchers successfully discovered two novel genes for NSC. The FREM1 gene was identified as a candidate gene for metopic craniosynostosis, which begins at the nose and progresses towards the top of the skull. Study results revealed that mutations in FREM1 could account for up to 7\;% of such cases. This particular study was presented at a 2010 meeting of the European Society of Human Genetics and is currently under peer review for publication. The second gene identified, a member of the Leucine-Rich Repeat (LRR) gene family, is still undergoing validation studies and requires additional work before it can be considered as a completed study. The outcomes of this project will have implications for generating knowledge about critical genes involved in regulating the biological processes that take place in cranial bone fusion. Development of genomic therapies mean that corrective surgery for the disorder could be avoided.
