Identification and characterization of genetic variants in an Australian autism spectrum disorder cohort

2016 ◽  
Author(s):  
Joon-Yong An
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Variants ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Identification And Characterization

scholarly journals High Resolution Magnetic Resonance Imaging for Characterization of the Neuroligin-3 Knock-in Mouse Model Associated with Autism Spectrum Disorder

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e109872 ◽  
Author(s):  
Manoj Kumar ◽  
Jeffery T. Duda ◽  
Wei-Ting Hwang ◽  
Charles Kenworthy ◽  
Ranjit Ittyerah ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Autism Spectrum Disorder ◽  
Magnetic Resonance ◽  
High Resolution ◽  
Mouse Model ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Resonance Imaging

scholarly journals Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

2016 ◽  
Vol 19 (11) ◽  
pp. 1454-1462 ◽  
Author(s):  
Arjun Krishnan ◽  
Ran Zhang ◽  
Victoria Yao ◽  
Chandra L Theesfeld ◽  
Aaron K Wong ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Basis ◽  
Functional Characterization ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genome Wide

scholarly journals Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hidekazu Kato ◽  
Itaru Kushima ◽  
Daisuke Mori ◽  
Akira Yoshimi ◽  
Branko Aleksic ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Histone Methylation ◽  
Genetic Variants ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Gene Encoding ◽  
Rare Genetic Variants ◽  
Lysine Demethylase ◽  
Methylation Patterns ◽  
Sample Set

AbstractDysregulation of epigenetic processes involving histone methylation induces neurodevelopmental impairments and has been implicated in schizophrenia (SCZ) and autism spectrum disorder (ASD). Variants in the gene encoding lysine demethylase 4C (KDM4C) have been suggested to confer a risk for such disorders. However, rare genetic variants in KDM4C have not been fully evaluated, and the functional impact of the variants has not been studied using patient-derived cells. In this study, we conducted copy number variant (CNV) analysis in a Japanese sample set (2605 SCZ and 1141 ASD cases, and 2310 controls). We found evidence for significant associations between CNVs in KDM4C and SCZ (p = 0.003) and ASD (p = 0.04). We also observed a significant association between deletions in KDM4C and SCZ (corrected p = 0.04). Next, to explore the contribution of single nucleotide variants in KDM4C, we sequenced the coding exons in a second sample set (370 SCZ and 192 ASD cases) and detected 18 rare missense variants, including p.D160N within the JmjC domain of KDM4C. We, then, performed association analysis for p.D160N in a third sample set (1751 SCZ and 377 ASD cases, and 2276 controls), but did not find a statistical association with these disorders. Immunoblotting analysis using lymphoblastoid cell lines from a case with KDM4C deletion revealed reduced KDM4C protein expression and altered histone methylation patterns. In conclusion, this study strengthens the evidence for associations between KDM4C CNVs and these two disorders and for their potential functional effect on histone methylation patterns.

scholarly journals Genomics of autism spectrum disorder: approach to therapy

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 627 ◽  
Author(s):  
Fatma Ayhan ◽  
Genevieve Konopka
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Variants ◽  
Molecular Mechanisms ◽  
Three Dimensional ◽  
Protein Translation ◽  
Autism Spectrum ◽  
Current Treatment ◽  
Spectrum Disorder ◽  
Current State ◽  
Genetics And Genomics

Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental condition with no current treatment available. Although advances in genetics and genomics have identified hundreds of genes associated with ASD, very little is known about the pathophysiology of ASD and the functional contribution of specific genes to ASD phenotypes. Improved understanding of the biological function of ASD-associated genes and how this heterogeneous group of genetic variants leads to the disease is needed in order to develop therapeutic strategies. Here, we review the current state of ASD research related to gene discovery and examples of emerging molecular mechanisms (protein translation and alternative splicing). In addition, we discuss how patient-derived three-dimensional brain organoids might provide an opportunity to model specific genetic variants in order to define molecular and cellular defects that could be amenable for developing and screening personalized therapies related to ASD.

Characterization of Autism Spectrum Disorder across the Age Span by Intrinsic Network Patterns

2019 ◽  
Vol 32 (3) ◽  
pp. 461-471 ◽  
Author(s):  
Benjamin R. Morgan ◽  
George M. Ibrahim ◽  
Vanessa M. Vogan ◽  
Rachel C. Leung ◽  
Wayne Lee ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Network Patterns

scholarly journals Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

2013 ◽  
Vol 93 (2) ◽  
pp. 249-263 ◽  
Author(s):  
Yong-hui Jiang ◽  
Ryan K.C. Yuen ◽  
Xin Jin ◽  
Mingbang Wang ◽  
Nong Chen ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genetic Variants ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Whole Genome

Characterization of childhood-onset complex partial seizures associated with autism spectrum disorder

2011 ◽  
Vol 20 (3) ◽  
pp. 524-527 ◽  
Author(s):  
Muneaki Matsuo ◽  
Toshiyuki Maeda ◽  
Kiyohisa Ishii ◽  
Daisuke Tajima ◽  
Masahiro Koga ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Partial Seizures ◽  
Childhood Onset ◽  
Complex Partial Seizures

scholarly journals Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies

2014 ◽  
Vol 23 (24) ◽  
pp. 6495-6511 ◽  
Author(s):  
Chie Shimamoto ◽  
Tetsuo Ohnishi ◽  
Motoko Maekawa ◽  
Akiko Watanabe ◽  
Hisako Ohba ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Functional Characterization ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Gene Variants ◽  
Behavioral Studies
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