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Lab Reports
June 3, 2009

Genes and Intellectual Disability

JAMA. 2009;301(21):2202. doi:10.1001/jama.2009.757

A 5-year international collaboration of 70 scientists has led to the identification of 9 genes that, when mutated, are associated with X-linked mental retardation (XLMR) [Tarpey PS et al. Nature Genet. 2009;41(5):535-543].

The researchers sequenced 720 of the about 800 known genes on the X chromosome in 208 families affected by the condition. The 9 new genes can now be added to the approximately 80 previously identified genes involved in this group of intellectual disabilities, allowing for more comprehensive genetic counseling. The researchers cautioned, however, that most of the mutated genes responsible for XLMR have not been identified.