Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).
One high-functioning boy with autism had a small deletion on chromosome 2, giving geneticists a new place to study.
01Research in Context
What this study did
Doctors looked at one boy with autism. He had a missing piece on chromosome 2. They mapped the exact spot of the deletion.
The boy spoke well and scored high on IQ tests. The team wanted to see if his DNA change could guide future gene hunts.
What they found
The missing stretch sits at 2q32. No known gene was broken, but the spot holds several brain-active genes.
This single case adds 2q32 to the list of places to watch in autism genetics.
How this fits with other research
Cramm et al. (2009) found an extra chunk of chromosome 8p21 in one teen with autism and self-biting. Both papers are lone-patient maps, just on different chromosomes.
Shields et al. (2013) saw the well-known 15q11-13 duplication in a small group. Their case series gave an EEG signature, while Louise et al. give only a location.
Dixon et al. (2008) mapped a chromosome 1-7 swap in one child with both autism and childhood schizophrenia. Again, no gene was disrupted, matching the 2q32 pattern.
Why it matters
You will not test for 2q32 in clinic tomorrow. Still, keep an eye on genetic reports. If a client shows this deletion, you can note it as a possible autism-linked finding and track future work on that region.
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02At a glance
03Original abstract
Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the three core areas of communication, social interaction, and behavior. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of a genetic etiology. Molecular genetic studies report some association with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here we report a clinical case of autism with a deletion on chromosome 2 in a young male with high-functioning autism. The deletion seems to correspond with regions emerging from linkage studies. We propose this as a possible candidate region in the search for autism genes.
Journal of autism and developmental disorders, 2003 · doi:10.1023/a:1022242807513