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Many syndromes and chromosomal abnormalities have been associated with autism, but, until now, only three specific genes had been identified as having mutations that cause autism spectrum disorder (ASD): SH3 and multiple ankyrin repeat domains 3 (SHANK3), neuroligin-3 (NLGN3), and contactin associated protein-like 2 (CNTNAP2). In the January 2008 issue of American Journal of Human Genetics, three independent research groups describe functional variants (involving rare mutations, disruptions, and common variants) in the CNTNAP2 gene that are associated with ASD. However, the picture is complex.
In a previous report, researchers described a homozygous mutation of CNTNAP2 associated with medication-insensitive temporal lobe seizures, language r…