Abnormal Chromosome Causes Clubfoot

by Rathi Manohar on  July 03, 2010 at 2:13 PM Research News
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Abnormal Chromosome Causes Clubfoot
The most common cause of inherited clubfoot has been revealed, believe scientists at Washington University School of Medicine in St. Louis.

By performing a routine genetic screening on 66 patients with an inherited form of clubfoot, Dr. Christina Gurnett, and her colleagues found abnormalities in a region of chromosome 17 in four patients.

Three of the patients had small recurrent DNA duplications, and one had a small recurrent DNA deletion on chromosome 17.

"What we're learning about birth defects is that for some genes involved in very early fetal development, if you have either too much or too little of them, you may develop the same condition. This appears to be the case for clubfoot," said Gurnett.

The researchers ran a test commonly used to evaluate children for neurodevelopmental disorders such as autism called a chromosomal microarray.

Gurnett said that it was the first time researchers used this kind of test specifically for isolated clubfoot.

"Since few genes have previously been implicated in clubfoot, this discovery represents the most common cause of isolated clubfoot found to date. This technology can be used immediately for genetic testing," said Gurnett.

"Our findings are significant in that they were present in 6 percent of familial clubfoot cases tested and were associated with clubfeet that were rigid and prone to a difficult treatment course," said Dr. Matthew B. Dobbs Dobbs, co-author of the study.

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