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Genetic Link to Smith-Magenis Syndrome Found

Developmental disorder traced to one gene

TUESDAY, March 25, 2003 (HealthDayNews) -- The gene that's responsible for the developmental disorder called Smith-Magenis syndrome (SMS) has been identified by Michigan State University researchers.

Their finding appears in the March 24 issue of Nature Genetics.

Scientists may now be able to develop new therapies to treat the disorder and the problems that accompany it.

SMS causes varying degrees of mental retardation, head and face deformities, sleep disturbances and self-injurious behavior. It was always assumed that more than one gene contributed to SMS.

However, the researchers found that a mutation on a gene called retionic acid induced 1 (RAI1) prevents the production of normal protein from that gene. People with SMS have one normal functioning RAI1 protein from one chromosome but don't get normal protein function from the other chromosome.

While prevention of SMS may be impossible, early diagnosis may result in improved outcomes for people with the disorder.

"I think that in the future, if we understand what this gene, this protein, does and how it interacts with other proteins in the cell, we might be able to develop some kind of drug therapy that might help deal with the behaviors a little better," study author Sarah Elsea says in a news release. "Early diagnosis is beneficial because the child needs the most appropriate early interventions."

More information

Here's where you can learn more about Smith-Magenis syndrome.

SOURCE: Michigan State University, news release, March 24, 2003
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