Mutations Cause Rare Genetic Disease in Children

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Mutations Cause Rare Genetic Disease in Children
In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5—one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease.
“It’s just like building a house,” said senior author Udai Pandey, Ph.D., associate professor of pediatrics, human genetics and neurology at the University of Pittsburgh School of Medicine. “You take out the most important brick at the base and the whole building falls apart.”

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