Diagnostic exome sequencing in persons with severe intellectual disability

Original research article by J. de Ligt et al. (2012).

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In this study, 100 patients with severe intellectual disability (and their unaffected parents) underwent exome sequencing to attempt to identify a genetic cause for their diagnosis. Further analysis was performed for five genes that have been associated with intellectual disability (DYNC1H1, GATAD2B, ASH11, KIFSC and CTNNB1) in 765 additional patients with intellectual disability. One individual was identified to have some degree of intellectual disability, behavior problems, epilepsy, sleep disturbances, stereotypic behaviors (which is one of the features of autism).