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First Gene Variants Linked to Stuttering Discovered
Date:2/10/2010

Researchers say finding could lead to better therapies, earlier intervention

WEDNESDAY, Feb. 10 (HealthDay News) -- Researchers have identified the first gene mutations linked to stuttering.

Surprisingly, the three genes are also linked to some very severe and rare metabolic disorders, but most stutterers are only affected by the speech problem. The researchers estimate that these mutations account for about 9 percent of stuttering cases.

"This is the first gene information that will tell somebody that they're predisposed to develop this type of stuttering," said Dr. Robert Marion, director of the Center for Congenital Disorders at the Children's Hospital at Montefiore Medical Center in New York City. He was not involved in the study.

"At one point, we may be able to find these mutations and predict that this child with this mutation in this particular gene is likely to go on to develop stuttering," continued Marion, who authored Genetic Rounds: A Doctor's Encounters in the Field That Revolutionized Medicine. "The thinking would be that if we got a kid in speech therapy early on in life, it might prevent this from happening."

"Current therapies are limited in their effectiveness because they're all undertaken without understanding of what causes the disorder," added Dennis Drayna, senior author of the paper, which is published online Feb. 10 in the New England Journal of Medicine. "Now that we know what causes stuttering, we can think about more strategic ways of designing therapies."

Further down the line, enzyme replacement therapy may even be an option.

"Basically, you just give the normal enzyme back to the body," explained Drayna, who is a section chief at the National Institute on Deafness and Other Communication Disorders. "Enzyme therapy has been shown to be safe, but it's the distant future."

Investigators have long suspected that stuttering has a str
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