Exome sequencing and diffusion tensor imaging in developmental disabilities.

ABSTRACT:

Background

We had previously shown that arcuate fasciculus is poorly developed in patients with intellectual and developmental disabilities (IDD) using diffusion tensor imaging (DTI). In the present study, we used exome sequencing to identify the candidate variants in IDD patients with and without DTI abnormalities.

Methods

Eighteen children with IDD (age: 67 ± 36 mo, 9 females) were included in the present study. The DTI was used to determine the integrity of arcuate fasciculus. The next-generation sequencing was performed on the Solid 4 platform. A novel, analytical strategy was developed to identify a set of candidate genes of interest. We then searched for novel, nonsynonymous variants in the patients within this subset of genes and in known IDD genes.

Results

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SUBMITTER: Sundaram S 

PROVIDER: S-EPMC3943710 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature