A gene that could play a role in causing the most severe cases of clubfoot has been identified by scientists at the University of Aberdeen, Scotland.
The causes of clubfoot are not well understood, though it sometimes runs in families and it is known that genes are involved. The researchers believe they may have identified a gene in a mouse model that is linked to the more serious cases of clubfoot in humans.
The gene, called Limk1, is required for normal nerve growth and has been shown to be part of a pathway of genes, one of which is already known to be linked to clubfoot in mice.
“Our hypothesis is that probably for most human clubfoot patients, it’s not just one gene that goes wrong, there are probably predisposed mutations in several genes in these pathways and they add up to eventually cause muscle weakness,” said geneticist Martin Collinson, PhD, a professor at the university and leader of the study. “The next stage is to look at DNA samples taken from human clubfoot patients and screen them to see if there are mutations in these pathways.”
Collins believes children’s feet with these gene deformations will revert back once treatment is finished and suggests that screening for the genes could avoid unnecessary intervention.
Editor’s note: This story was adapted from materials provided by the University of Aberdeen.
