Rare Genetic Variants Linked to Unrecognized Cognitive Dysfunction

Across multiple countries and populations, large and intermediate copy number variations are associated with higher rates of intellectual disability and limited educational attainment.

Copy number variations (CNVs) are differing numbers of repeated genetic sequences; large CNVs have been associated with intellectual disability in clinical cohorts. These researchers examined links between large or intermediate-sized CNVs and both educational attainment and intellectual function in samples from a 52,000-subject Estonian population-based database; three additional analyses were performed, in U.S. and Italian adults and in adolescents in the U.K.

In the Estonian discovery and replication samples (6819 and 1058 individuals, respectively), 0.7% were found to have large CNVs and previously undetected clinical syndromes. In the discovery sample, the rate of intermediate-sized CNVs was 10.5% (216 carriers of deletions and 509 carri…

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Peter Roy-Byrne, MD

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Peter Roy-Byrne, MD

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Rare Genetic Variants Linked to Unrecognized Cognitive Dysfunction

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