MSU researchers have identified a gene responsible for a rare developmental disorder, paving the way for easier diagnosis of the syndrome.

Smith-Magenis syndrome, or SMS, is characterized by physical, developmental and behavioral disabilities including mental retardation, sleep disturbances and self-injurious behavior.

Last summer, a team of four MSU researchers discovered the syndrome is caused by a gene mutation on chromosome 17. The abnormality on this gene prevents the production of a normal protein at that location and leads to the disorder.

It was previously thought more than just one gene contributed to the syndrome, researcher Sarah Elsea said.

Elsea, an assistant professor in the departments of Pediatrics and Human Development and Zoology, began working on the project when she was studying at Baylor College of Medicine in Waco, Texas, and brought it with her to MSU five years ago.

The study was published in Monday's edition of Nature Genetics, a peer-reviewed British scientific journal.

The syndrome often goes undetected because routine genetic examinations skip over the gene deletion and there are few physical indicators, Elsea said.

"Many children with SMS look just like really pretty babies and no one thinks anything is wrong with them," she said. "It's important to realize that you can have developmental delay and a genetic disorder and you don't have to look different."

While there is no prevention of the genetic disorder, this discovery opens the door for better diagnosis of children with SMS, Elsea said.

"The next step is trying to figure out the function of the gene in the cell and the range of effects of mutations," she said.

Lansing resident Jeff Hill said he hopes the discovery helps other families detect the disorder early on in their children's lives.

After treating their son for cerebral palsy for five years, Jeff and Nichol Hill found out that wasn't the problem.

Their 6-year-old son was diagnosed with SMS after a genetic sample was sent to an MSU laboratory last April.

For the couple, the news was bittersweet, Jeff Hill said.

"It's not news you're happy to hear but at least you know why things are the way they are," he said.

The Hills are one of about 100 families involved in research with Elsea's lab and will participate in a weeklong research program at the National Institute of Health in Maryland.

"It's not so much a cure for our son as trying to better understand the syndrome and make sure it doesn't go undetected," Hill said. "A lot of people are out there without diagnosis. I can't imagine going on with this situation without knowing what causes it."

The first group of children with SMS was noted in the 1980s, according to the support group Parents and Researchers Interested in Smith-Magenis Syndrome.

SMS occurs in one out of 25,000 births.

For more information on Smith-Magenis Syndrome, go to www.smithmagenis.org.