Could Recent Discoveries In Research Eventually Lead To Genetic Therapy For Clubfoot?

Kathleen Satterfield DPM FACFAOM

Soon there will be a time when the next generation of cutting-edge podiatrists trained in rearfoot surgery will see children with clubfoot being treated non-surgically. I am not talking about those patients who are amenable to treatment via serial casting. I am talking about the bad boy deformities that require tendon releases and opening of joint capsules for repositioning.

It was a previously unheard of thought — treatment science fiction really. However, researchers from the Washington University School of Medicine in St. Louis recently discovered a mutation in the gene responsible for early growth of the lower limbs and other genes linked to development of clubfoot. With this discovery, they are now working toward novel therapies for the treatment of clubfoot and other lower extremity disorders.

The researchers analyzed DNA from 35 members of an extended family of a male infant patient with bilateral clubfoot, twelve toes and an absent right tibia.

This family-wide study revealed a mutation on chromosome 5 in an area that was critical to development of the lower extremity. The researchers found that others in the family were variably affected by the mutation. Five family members had clubfoot, five others had other lower limb abnormalities and three were silent carriers of the gene.

“Identifying the genes for clubfoot will allow for improved genetic counseling and may potentially lead to new and improved treatment and preventive strategies for this disorder,” notes Matthew Dobbs, MD, an Associate Professor of Orthopedic Surgery at the Washington University School of Medicine. Dr. Dobbs is also a clubfoot specialist at St. Louis Children's Hospital and St. Louis Shriners Hospital, and a participant in the research project.

Clubfoot is the first lower extremity deformity gene to be identified but other familial deformities may follow. Could genetic therapy for flatfoot, bunions, hammertoe deformities and others be far behind?

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