The gene, known as PTEN, was found to be changed, or mutated, in three of 18 people with larger than normal heads and autism spectrum disorder. Autism spectrum disorder includes classical autism, Rett syndrome and other conditions.
The study was led by researchers at The Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital (OSU CCC-James) and Richard J. Solove Research Institute and at Children's Mercy Hospitals and Clinics, Kansas City, Mo.
Inherited gene mutations in the PTEN gene are seen in Cowden syndrome, a poorly recognized disorder that increases a person's risk of developing cancers of the breast, thyroid and uterus. PTEN mutations are also found in several non-inherited (i.e., spontaneous) cancers, including thyroid and endometrial cancers and some brain tumors.
The findings, published in the April Journal of Medical Genetics, raise the possibility that some people with autism and large heads may have an increased risk of cancer.
"If our findings are verified, I think that patients with classical autism or autism spectrum disorders and who have large heads should be offered genetic counseling and testing for PTEN mutations," says principal investigator Charis Eng, professor of internal medicine and director of the clinical cancer genetics program at the OSU CCC-James.
"If our findings are verified, I think that patients with classical autism or autism spectrum disorders and who have large heads should be offered genetic counseling and testing for PTEN mutations."
"Those with PTEN mutations should be offered cancer surveillance like anyone with Cowden syndrome or other syndromes involving PTEN mutations and an elevated risk of cancer."