Thanks to a productive collaboration between clinical and basic scientists, researchers from the University of Chicago have identified the first genetic cause of one of the most common birth defects of the brain, Dandy-Walker malformation (DWM). Infants with this disorder, about one in 10,000 births, have a small, displaced cerebellum and other brain abnormalities that can reduce coordination, impair mental function and cause hydrocephalus.
In the September, 2004, issue of Nature Genetics -- to be published online August 22 -- the researchers show that in humans, loss of one copy of each of two adjacent genes, known as ZIC1 and ZIC4, causes Dandy-Walker. The researchers then used this finding to create a mouse model to allow them to study the developmental basis of the disorder.
"Dandy-Walker malformation is an important clinical problem as well as a scientific mystery," said study co-author William Dobyns, M.D., professor of human genetics, neurology and pediatrics at the University of Chicago and an author of the study. "We see about 20 cases per year, but until recently, there was not even an understanding that Dandy-Walker had a genetic basis."
John Easton | EurekAlert!
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