Today a company calledAvicenaand theUniversity of Cincinnatiwill be presenting on a gene mutation found in patients diagnosed with Autism. The sample size was 100 male autism spectrum patients aged 3-18 years old. The mutation was found in a gene calledSLC6A8(creatine transporter gene) This gene is located on the long arm of the X chromosom e. This likely is the reason male subjects were screened. What was found is that 1% i.e. 1 patient was found with the mutation. Previously this gene has been found in 2% of X-linked mental retardation. Second only to Fragile X Syndrome which is screened for prenatally.
The Gene Sherpa says: Personally I don't think we can call this an Autism gene per se. Patients with even mild MR(mental retardation) can have autism spectrum signs and symptoms.The OMIM listing indicates at least one "autism-like" child. I feel that is the more likely case. I can't believe this Pharma company has issued a press release for this, nor can I believe that someone in the media picked this up, other than the emotional pull for these families with afflicted children.