The genetic basis of clubfoot

Congenital talipes equinovarus, usually known as ‘clubfoot’ is a lower limb abnormality affecting 1 in every 500 babies born in Scotland. Its developmental etiology is poorly known. The abnormality can run in families. We have identified the gene mutated (Limk1) in a mouse model of clubfoot, the pma mouse, and are now screening human clubfoot families for mutations in this gene. The purpose of this project is to determine how Limk1 mutation causes clubfoot. Our preliminary data are that it affects sciatic nerve development, so this will be tested directly by manipulating the gene and observing its effect on limb development in chicken embryos.