X marks the spot -- TBL1X gene involved in autism spectrum disorder

A team of researchers across America combined three sets of genomic data incorporating over 3000 affected children and their family members or non-related case control individuals. The GWAS study compared single nucleotide polymorphisms (SNP) on the X chromosomes of the children with ASD to the control groups, and found differences within the genes for Duchenne muscular dystrophy (DMD), IL1RAPL2 (involved in inflammation), and in TBL1X. TBL1X is part of the Wnt-signaling pathway, which is in turn part of the complex mechanism controlling embryonic neurological development and the maintenance of brain function in adults.

Prof Eden Martin from the Hussman Institute for Human Genomics, who lead the multi-centre team explained, "The SNP in TBL1X is associated with an increase in risk for ASD of about 15%. This could reflect either an unidentified rare mutation (or mutations), which has large impact, or a more common change with a more subtle effect, on the development of ASD. Further study of TBL1X will help us to pinpoint the DNA changes involved and help us to understand exactly how these changes and the Wnt-signaling pathway is involved in ASD."

Provided by BioMed Central