Gene mutated in cancer found in some w...( ells from becoming cancerous. When a mu...)

Autism is a developmental disorder that typically appears by age 3. It has a prevalence of four to 10 cases per 10,000 people. It is three to four times more common in males than females. People with autism typically show impaired social interactions; impaired verbal and nonverbal communications; repeated body movements, such as hand flapping or rocking; attachment to objects; and resistance to changes in routine.

This study involved 18 children 3 to 18 years of age and diagnosed with ASD and having an enlarged head, a condition known as macrocephaly. The patients' head circumference placed them in the 97th to 99th percentile for head size for their age and sex.

Twelve of the 18 patients were identified during clinic visits; six, who had classic autism and macrocephaly, were selected from the Autism Genetic Resource Exchange, a gene bank for autism.

Of the 18 patients, three males (17 percent) age 2 to 4 years showed mutations in the PTEN gene. The locations of the mutations in the PTEN gene are different from those seen in people with cancer, Eng notes, but that may not matter.

"Tumor suppressor genes can be silenced in many ways," she says, "and if the gene does not function, it can raise the lifetime risk of cancer."

The paper's first author is Merlin G. Butler, Children's Mercy Hospitals and Clinics. Other OSU researchers involved in this study were Xiao-Ping Zhou, research scientist, and Robert Pilarski, genetic counselor.

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Contact: Darrell E. Ward
Ward-15@medctr.osu.edu
614-293-3737
Ohio State University
7-Apr-2005