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Abstract #3526

SHANK-3 gene mutation results in comprehensive white matter damage in children: a DTI-TBSS study

Dongyun Li1, Chunxue Liu1, Xiu Xu1, Ed X. Wu2, and Zhongwei Qiao1

1Children's Hospital of Fudan University, Shanghai, People's Republic of China, 2Laboratory of Biomedical Imaging and Signal Processing, The University of Hong Kong, HongKong, Hong Kong

Autism spectrum disorder (ASD) is classified as a neuro-developmental disease with a dramatically increasing prevalence from 4 in 10000 to recently 1 in 68 children. SHANK-3 proteins are multidomain scaffold proteins of the postsynaptic density and also play a role in synapse formation and dendritic spine maturation. Recent human genetic studies suggest the potential association between molecular defects of SHANK-3 and ASD. DTI imaging and TBSS analysis was applied to study how SHANK-3 gene mutation results in severe microstructure of white matter. Results showed significant damage in SHANK-3 group but no positive findings between ASD and typical development controls. These results calls for attention to re-examine the previous neuroimaging studies of ASD or other neuro-developmental diseases where the positive correlations could be contaminated with unexplored genetic mutation influence.

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