Motor Ways: Gene mutation impairs muscle coordination

Individuals with a rare inherited disorder called Joubert syndrome are clumsy when they walk or use their hands, and they have irregular breathing and eye movements. Patients with severe symptoms tend to die young.

Scientists have now identified a gene that underlies Joubert syndrome. Christopher A. Walsh of Harvard University and his colleagues found that when the Abelson helper integration site gene (AHI1) on chromosome 6 is abnormal, it disrupts prenatal development of a brain region that controls coordinated movement of hands, feet, and other parts of the body.