The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.

ABSTRACT: Trisomy 21 (T21), or Down syndrome (DS), is the most frequent and recognizable cause of intellectual disabilities. The level of disability, as evaluated by the intelligence quotient (IQ) test, varies considerably between patients independent of other factors. To determine the genetic or molecular basis of this difference, a high throughput transcriptomic analysis was performed on twenty T21 patients with high and low IQ, and 10 healthy controls using Digital Gene Expression. More than 90 millions of tags were sequenced in the three libraries. A total of 80 genes of potential interest were selected for the qPCR experiment validation, and three housekeeping genes were used for normalizing purposes. HLA DQA1 and HLA DRB1 were significantly downregulated among the patients with a low IQ, the v

SUBMITTER: Megarbane A 

PROVIDER: S-EPMC3798834 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature