First gene behind clubfoot discovered

[theblackalchemist]

n a study on a multi-generation family with clubfoot, the researchers closed in on a gene called PITX1, which is critical for early development of lower limbs.

 

The finding is the first step toward improved genetic counselling and the development of novel therapies, say the researchers.

 

"To our knowledge this report is the first evidence for PITX1 mutation in human disease. Once we identified the mutation, we proved that all of the individuals in this family with lower extremity malformations also have the mutation. Having large families to work with is very helpful in genetic research," said Christina Gurnett, M.D., Ph.D., assistant professor of neurology of pediatr

First gene behind clubfoot discovered-Health/Sci-The Times of India