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Gene mutation identified in Joubert syndrome

By January 15, 2005

Two separate research teams--one at the University of California, San Diego School of Medicine (UCSD), the other at Harvard Medical School--have concurrently identified the same gene responsible for a form of Joubert syndrome, a brain disorder. The AHI1 gene mutation identified is on chromosome 6, and is the first genetic defect clearly associated with the syndrome. The researchers believe the genes causing Joubert syndrome will also shed light on other brain disorders such as autism and mental retardation.
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