Small changes in one chromosome linked to wide range of mental disorders, UW researchers report
Small changes in one chromosome have been linked to a wide range of mental disorders including mental retardation, autism and other birth defects, University of Washington researchers report in a paper published online Sept. 10 by the New England Journal of Medicine.
The discovery could lead to new ways for doctors to diagnose mental retardation, autism and other disorders.
The researchers used a new technique called comparative genomic hybridization to compare the DNA in the chromosomes of 25 people with unexplained mental retardation, autism and other congenital abnormalities with that of more than 5200 people without such disorders.
They found that those with the abnormalities had small stretches of DNA that was deleted or duplicated in a region called 1q21.1 while people who were not affected with these disorders tended not to have these changes.
However, because the changes were linked to such a wide variety of disorders some severe and some mild, testing for these genetic changes will raise difficult issues for patients and their families, the researchers warn:
Evaluation of family members may reveal apparently unaffected (or mildly affected) persons carrying the same rearrangement. Given the spectrum of possible outcomes associated with 1q21 rearrangements, such persons should be monitored in the long term for learning disabilities, autism, or schizophrenia or other neuropsychiatric disorders. Counseling in the prenatal setting will present the greatest challenge: although the likelihood of an abnormal outcome is high in a person with a 1q21.1 rearrangement, current knowledge does not allow us to predict which abnormalities will occur in any given person.
Dr Heather C. Mefford of the UW Department of Genome Scineces was the lead author of the study, Professor Evan Eichler, lead the research team.
To learn more:
- Go to the March of Dimes website which has information about chromosomal disorders.
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