Today a company called Avicena and the University of Cincinnati will 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 called SLC6A8 (creatine transporter gene)
This gene is located on the long arm of the X chromosome. 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.
Wednesday, May 9, 2007
Autisms versus Mental Retardation.
Posted by Steve Murphy MD at 3:41 AM
Labels: Autism, Avicena, Cinicinnati, creatine transporter gene, fragile x syndrome, SLC6A8
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