A sizeable fraction of cases of developmental delay in children are caused by mistakes in the number of copies of certain genes in their DNA.
Evan Eichler at the University of Washington in Seattle and his colleagues constructed a large and detailed map of human copy number variations (CNVs), which arise from DNA deletions, duplications or other mutations. The authors used a technique called array comparative genomic hybridization to measure CNVs in 15,767 children with intellectual disabilities and various birth defects.
They estimate that 14.2% of intellectual disability and developmental delay is caused by CNVs that cover large stretches — 400 kilobases or more — of DNA. They also found 14 disease-causing CNVs that were previously either unknown or only weakly supported by evidence.
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A map of gene copy numbers. Nature 476, 255 (2011). https://doi.org/10.1038/476255a
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DOI: https://doi.org/10.1038/476255a
