Duane syndrome, which is more prevalent in women and in the left eye, affects about half a million people worldwide. It is a congenital eye movement disorder that causes eye muscles to contract and relax when they should not. The syndrome affects nerve growth in the eyes and cause them to have limited sideways movement.
The research team, including scientists from the United Kingdom and the United States, studied DNA samples provided by multiple members of different families and identified a unique mutation in the gene CHN1 in each of the seven families.
Researchers found that the gene responsible for Duane syndrome is widely expressed throughout the nervous system. This gene encodes a signaling molecule, which previous studies in mice had shown to be essential for normal upper motor neuron axon guidance, Dr. John Chilton, an academic fellow in clinical neuroscience and molecular biology at the Peninsula Medical School in the United Kingdom, said in a news release.
The study was published in the July 25 issue of the journal Science Express.
