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Same gene that stunts infants' growth also makes them grow too big
Date:5/27/2012

the building blocks for our bodies. Most of the human diseases resulting from mutations in a single gene can be blamed on changes in a protein-coding sequence. By scanning the entire exome, or protein-coding factory of the genome, 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," said Vilain. "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 Beckwith-Wiedemann syndrome," he added. "The two diseases are polar opposites of each other."

Children born with Beckwith-Wiedemann 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, children with the disorder typically die of cancer at a young age. The disease affects one in 15,000 births.

"Finding opposite functions in the same gene is a rare biological phenomenon" emphasized Vilain. "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 Beckwith-Wiedemann. 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 odyss
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Contact: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles Health Sciences
Source:Eurekalert

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