CNTNAP2 “unequivocally implicated” in Type 1 autism

Fresh off the press!

A candidate gene has been significantly linked to the development of autism by three separate groups of scientists.

Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate for autism, has now been “unequivocally implicated” in causing the newly defined Type 1 autism. Scientists from Yale University, the University of California, Los Angeles, and the Johns Hopkins University have independently replicated findings that a mutated version of CNTNAP2 causes autism in the general population. CNTNAP2 has been identified as enriched in circuits important for language development, further demonstrating a connection between genetic risk for autism and specific brain structures.

These are exciting findings, as the next step in the research will now go beyond finding a cause for autism, to actually developing diagnostic tests for the CNTNAP2 mutation which could help in early intervention and treatment of the disorder.

The three studies appear in the January 10 issue of the American Journal of Human Genetics.

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Tags: autism, CNTNAP2, Contactin Associated Protein-Like 2, brain, development, structures, research, linkage, association, gene-expression