Genetic Deletion Linked to Raised Risk of Autism,
FRIDAY, Nov. 5 (HealthDay News) -- An international consortium
of researchers has linked a regional abnormality found in a
specific chromosome to a significantly increased risk for both
autism spectrum disorders (ASD) and schizophrenia.
Although previous work has indicated that genetic mutations play
an important role in the risk of both disorders, this latest
finding is the first to hone in on this specific abnormality, which
takes the form of a wholesale absence of a certain sequence of
Individuals missing the chromosome 17 sequence are about 14
times more likely to develop autism and schizophrenia, the research
"We have uncovered a [genetic] variation that confers a very high risk for ASD, schizophrenia and neurodevelopmental disorders," study author Dr. Daniel Moreno-De-Luca, a postdoctoral fellow in the department of human genetics at Emory University in Atlanta, said in a university news release.
Moreno-De-Luca further explained the significance of the finding
by noting that this particular region, comprised of 15 genes, "is
among the 10 most frequent pathogenic recurrent genomic deletions
identified in children with unexplained neurodevelopment
impairments. We believe it also may increase risk for other
psychiatric conditions such as bipolar disorder."
He and his colleagues report their findings in the Nov. 4 online
edition of the
American Journal of Human Genetics.
Identification of this new genetic marker for autism and
schizophrenia stemmed from work with about 23,000 patients
diagnosed with autism, developmental delay, intellectual disability
or schizophrenia, 24 of whom had the chromosome 17 deletion.
By contrast, among a pool of nearly 52,500 healthy patients,
none were found to be missing the genetic material, the
The authors noted that prior research had established that a
mutation in one of the 15 missing genes in the newly identified
sequence is a cause of both renal cysts and diabetes syndrome.
For more on autism, visit the
U.S. National Institutes of Health.
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