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Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

Probing the Brain in Autism Using fMRI and Diffusion Tensor Imaging

Published on: September 12, 2011

Exome sequencing and diffusion tensor imaging in developmental disabilities.

Senthil Sundaram¹, A H M Huq², Tammy Hsia²

¹1] Department of Pediatrics, Wayne State University, Detroit, Michigan [2] Department of Neurology, Wayne State University, Detroit, Michigan [3] PET Center, Children's Hospital of Michigan, Detroit Medical Center, Detroit, Michigan.

Pediatric Research

|December 11, 2013

Summary

This summary is machine-generated.

Exome sequencing identified new genetic causes of intellectual and developmental disabilities (IDD). This study found novel variants in genes linked to brain development and IDD, including those affecting the arcuate fasciculus.

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Co-analysis of Brain Structure and Function using fMRI and Diffusion-weighted Imaging

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Published on: November 8, 2012

Area of Science:

Neurogenetics
Developmental Neuroscience
Genomics

Background:

Previous diffusion tensor imaging (DTI) studies indicated poor arcuate fasciculus development in intellectual and developmental disabilities (IDD).
This study investigates genetic underpinnings of IDD, focusing on patients with and without DTI-identified abnormalities.

Purpose of the Study:

To identify candidate variants associated with IDD using exome sequencing.
To explore the genetic basis of arcuate fasciculus abnormalities in IDD patients.

Main Methods:

Exome sequencing was performed on 18 children with IDD.
A novel analytical strategy identified candidate genes, followed by searches for nonsynonymous variants in these and known IDD genes.
Diffusion tensor imaging (DTI) assessed arcuate fasciculus integrity.

Main Results:

Seven novel heterozygous missense variants were found in ultraconserved genes associated with abnormal brain morphology.
Three novel heterozygous missense variants were identified in known IDD genes.
Two patients with underdeveloped arcuate fasciculus showed novel variants in axon guidance pathway genes (MID1, EN2).

Conclusions:

Exome sequencing successfully identified several novel genetic variants contributing to IDD.
The findings highlight potential new genetic causes for IDD and associated neurodevelopmental abnormalities.