Genetics and Health

Serotonin Transporter Gene (SLC6A4) and Autism

by Hsien Hsien Lei, PhD on August 26th, 2005

Vanderbilt University researchers report the discovery of 19 mutations in the serotonin transporter gene (SLC6A4) in 120 families having more than one boy affected with autism. Unfortunately, these mutations are rare so the findings may only apply to a small group of individuals on the autism spectrum.

Tina Hesman of the St. Louis Post-Dispatch has a nice write-up highlighting key aspects of autism genetics research (despite mislabelling SLC6A4 as a serotonin receptor instead of transporter):

Scientists begin to trace autism’s genetic routes

What is known is that autism is a genetic disorder. The identical twin of a child with autism has about a 65 percent chance of having autism and about a 90 percent chance of having one of the autism spectrum disorders, including Asperger’s syndrome and PDD-NOS, said Dr. Eric Hollander, director of the Seaver Autism Center at Mount Sinai School of Medicine in New York. And siblings of autistic children, especially male siblings (boys are four times more likely than girls to have autism), have a higher risk of autism.

NB: This Sunday’s featured blog will be about a mother’s journey with her autistic son. Please stay tuned!

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POSTED IN: Genetics of Disease