Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes

Autism spectrum disorder (ASD) is frequently comorbid with other neurological disorders such as intellectual disability (ID) or global development delay (GDD) and epilepsy. The pathogenesis of ASD is complex. So far, studies have identified more than 1000 ASD risk genes. Most of them were also repor...

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Autores principales: Xiong, Juan, Chen, Shimeng, Pang, Nan, Deng, Xiaolu, Yang, Lifen, He, Fang, Wu, Liwen, Chen, Chen, Yin, Fei, Peng, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470315/
https://www.ncbi.nlm.nih.gov/pubmed/31031587
http://dx.doi.org/10.3389/fnins.2019.00349
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author Xiong, Juan
Chen, Shimeng
Pang, Nan
Deng, Xiaolu
Yang, Lifen
He, Fang
Wu, Liwen
Chen, Chen
Yin, Fei
Peng, Jing
author_facet Xiong, Juan
Chen, Shimeng
Pang, Nan
Deng, Xiaolu
Yang, Lifen
He, Fang
Wu, Liwen
Chen, Chen
Yin, Fei
Peng, Jing
author_sort Xiong, Juan
collection PubMed
description Autism spectrum disorder (ASD) is frequently comorbid with other neurological disorders such as intellectual disability (ID) or global development delay (GDD) and epilepsy. The pathogenesis of ASD is complex. So far, studies have identified more than 1000 ASD risk genes. Most of them were also reported to relate with other neurological diseases, and only several of them have been confirmed as pathogenic genes for autism. Little is known about the roles of these risk genes in neurological diseases with ASD. In the present study, we recruited a cohort of 158 neurological disorder probands with 163 variants of 48 ASD risk genes. Of these, 50 individuals (31.6%) were diagnosed with ASD. In the ASD patient subset, we identified several rarely reported candidate genes including DOLK, USH2A, and HUWE1. In a comparison of patients with neurological disorders with and without ASD, we found that ID/GDD was frequently comorbid with ASD whereas epilepsy was more common in the non-ASD group. Statistical analyses of all possible risk factors implicated that variants in synaptic genes, especially non-voltage-gated ion channel genes and in transcriptional and chromosome genes were related to ASD, but none of the investigated environmental factors was. Our results are useful for the future diagnosis and prognosis of patients with neurological disorders and emphasize the utility of genetic screening.
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spelling pubmed-64703152019-04-26 Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes Xiong, Juan Chen, Shimeng Pang, Nan Deng, Xiaolu Yang, Lifen He, Fang Wu, Liwen Chen, Chen Yin, Fei Peng, Jing Front Neurosci Neuroscience Autism spectrum disorder (ASD) is frequently comorbid with other neurological disorders such as intellectual disability (ID) or global development delay (GDD) and epilepsy. The pathogenesis of ASD is complex. So far, studies have identified more than 1000 ASD risk genes. Most of them were also reported to relate with other neurological diseases, and only several of them have been confirmed as pathogenic genes for autism. Little is known about the roles of these risk genes in neurological diseases with ASD. In the present study, we recruited a cohort of 158 neurological disorder probands with 163 variants of 48 ASD risk genes. Of these, 50 individuals (31.6%) were diagnosed with ASD. In the ASD patient subset, we identified several rarely reported candidate genes including DOLK, USH2A, and HUWE1. In a comparison of patients with neurological disorders with and without ASD, we found that ID/GDD was frequently comorbid with ASD whereas epilepsy was more common in the non-ASD group. Statistical analyses of all possible risk factors implicated that variants in synaptic genes, especially non-voltage-gated ion channel genes and in transcriptional and chromosome genes were related to ASD, but none of the investigated environmental factors was. Our results are useful for the future diagnosis and prognosis of patients with neurological disorders and emphasize the utility of genetic screening. Frontiers Media S.A. 2019-04-11 /pmc/articles/PMC6470315/ /pubmed/31031587 http://dx.doi.org/10.3389/fnins.2019.00349 Text en Copyright © 2019 Xiong, Chen, Pang, Deng, Yang, He, Wu, Chen, Yin and Peng. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Xiong, Juan
Chen, Shimeng
Pang, Nan
Deng, Xiaolu
Yang, Lifen
He, Fang
Wu, Liwen
Chen, Chen
Yin, Fei
Peng, Jing
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
title Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
title_full Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
title_fullStr Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
title_full_unstemmed Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
title_short Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes
title_sort neurological diseases with autism spectrum disorder: role of asd risk genes
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470315/
https://www.ncbi.nlm.nih.gov/pubmed/31031587
http://dx.doi.org/10.3389/fnins.2019.00349
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