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Disease that stunts infants' growth traced to same gene that makes kids grow too fast
Date:5/29/2012

ome, clinical geneticists can interpret every gene variant to track down the mutations that produce a patient's disease and rapidly reach a clear-cut diagnosis.

UCLA is one of only three academic centers in the nation that offers next-generation sequencing to the public for clinical use.

"We discovered a mutation in a tiny sliver of the chromosome that appeared in every family member affected by IMAGe syndrome," Vilain said. "This was a big step forward. Now we can use gene sequencing as a tool to screen for the disease and diagnose children early enough for them to benefit from medical intervention.

"We were a little surprised, because the mutation was located on a famous gene recognized for causing BeckwithWiedemann syndrome," he added. "The two diseases are polar opposites of each other."

Children born with BeckwithWiedemann syndrome named for the two doctors who discovered it grow very large, with big adrenal glands, elongated bones and oversized internal organs. Because their cells grow so fast, one in five children with the disorder die of cancer at a young age. The disease appears in approximately one out of 15,000 births.

"Finding opposite functions in the same gene is a rare biological phenomenon," Vilain emphasized. "When the mutation appeared in the slim section we identified, the infant developed IMAGe syndrome. If the mutation fell anywhere else in the gene, the child was born with BeckwithWiedemann. That's really quite remarkable."

IMAGe syndrome patients also tend to die young, due to poor adrenal activity, which physicians treat with hormone-replacement therapy.

The findings proved that Vilain and his colleagues had identified the correct mutation, bringing his 20-year odyssey to a successful end.

"Our findings leave no doubt that this set of symptoms is a true syndrome and not just a figment of my imagination," Vilain said.

"What makes this special for
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Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles
Source:Eurekalert

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