A chunk of DNA missing from chromosome 16 has been linked to intellectual disability.
Evan Eichler at the University of Washington in Seattle and his colleagues report a rare deletion of 520,000 base pairs from the chromosome. The deletion was present in 42 of 21,127 children with intellectual disability, but only 8 of 14,839 children of normal ability.
Some of the children had additional genetic defects, and were more severely disabled. This supports a 'two-hit' model that could explain why children with only the chromosome 16 deletion had a lower degree of impairment. Further analysis of different genetic defects suggests that this two-hit model extends to other neuropsychiatric conditions.
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Genetics: Two strikes. Nature 463, 852 (2010). https://doi.org/10.1038/463852e
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DOI: https://doi.org/10.1038/463852e