de Ligt et al. evaluated patients with intellectual disability to exclude known causes and then sequenced the coding regions of more than 21,000 genes obtained from 100 patients with an IQ below 50 and their unaffected parents. The total diagnostic yield was 16%, mostly involving de novo mutations. The authors conclude that de novo mutations represent an important cause of intellectual disability and exome sequencing an effective diagnostic strategy for their detection.

Diagnostic exome sequencing in persons with severe intellectual disability. de Ligt J et al. N Engl J Med. 2012 Nov 15;367(20):1921-9. PMID: 23033978

Posted by Yannis Trakadis, MD