Craniosynostosis Genetics
Studies from John Radcliffe Hospital describe new findings in craniosynostosis genetics
Published in Gene Therapy Weekly, March 19th, 2009
Current study results from the report, 'Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome,' have been published. "Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans. We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene," researchers in Oxford, the United Kingdom report.
"A rounded skull and shortened snout (often skewed) with dental malocclusion was observed in a minority of heterozygotes and many homozygotes. Development of...
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Source: Gene Therapy Weekly (2009-03-19)
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