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DNA defect linked to autism riskDate: 10/01/2008 09:27:07
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Scientists have found a genetic defect that appears to increase the risk of autism, a developmental disability that means people have difficulty with social communication and interaction.
Investigators from Massachusetts General Hospital (MGH) found that in around one per cent of individuals with autism or other related disorders, a segment of chromosome 16 is either missing or duplicated.
A genome scan of more than 1,400 people with autism and a similar number of their unaffected parents revealed that the segment was deleted in five individuals but not any of the parents, indicating that the defect was not inherited.
Senior author Dr Mark Daly, a researcher at the MGH Centre for Human Genetic Research, commented: "These large, non-inherited chromosomal deletions are extremely rare, so finding precisely the same deletion in such a significant proportion of patients suggests that it is a very strong risk factor for autism."
The expert described the discovery as a "critical first step" towards understanding how this particular genetic defect increases the risk for autism.
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