Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings

2021 ◽  
Author(s):  
Kei Ohashi ◽  
Satomi Fukuhara ◽  
Taishi Miyachi ◽  
Tomoko Asai ◽  
Masayuki Imaeda ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Clinical Settings ◽  
Syndromic Autism

scholarly journals Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder

PLoS ONE ◽  
2017 ◽  
Vol 12 (1) ◽  
pp. e0170386
Author(s):  
Viviane Neri de Souza Reis ◽  
João Paulo Kitajima ◽  
Ana Carolina Tahira ◽  
Ana Cecília Feio-dos-Santos ◽  
Rodrigo Ambrósio Fock ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Variation Analysis ◽  
Syndromic Autism

Elucidation of Abnormal Extracellular Regulated Kinase (ERK) Signaling and Associations with Syndromic and Non-syndromic Autism

2020 ◽  
Vol 21 ◽  
Author(s):  
Aarti Tiwari ◽  
Saloni Rahi ◽  
Sidharth Mehan
Keyword(s):  
Autism Spectrum Disorder ◽  
Single Gene ◽  
Neurodevelopmental Disorder ◽  
Gene Mutations ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Erk Signaling ◽  
Erk Pathway ◽  
Signaling Mechanism ◽  
Syndromic Autism

Abstract: Autism is a highly inherited and extremely complex disorder in which results from various cases indicate chro-mosome anomalies, unusual single-gene mutations, and multiplicative effects of particular gene variants, characterized pri-marily by impaired speech and social interaction and restricted behavior. The precise etiology of Autism Spectrum Disorder (ASD) is currently unclear. The extracellular signal-regulated kinase (ERK) signaling mechanism affects neurogenesis and neuronal plasticity during the development of the central nervous mechanism. In this regard, the pathway of ERK has re-cently gained significant interest in the pathogenesis of ASD. The mutation occurs in a few ERK components. Besides, the ERK pathway dysfunction lies in the upstream of modified translation and contributes to synapse pathology in syndromic types of autism. In this review, we highlight the ERK pathway as a target for neurodevelopmental disorder autism. In addi-tion, we summarize the regulation of the ERK pathway with ERK inhibitors in neurological disorders. In conclusion, a better understanding of the ERK signaling pathway provides a range of therapeutic options for autism spectrum disorder

Genetic analysis of reelin gene (RELN) SNPs: No association with autism spectrum disorder in the Indian population

2008 ◽  
Vol 441 (1) ◽  
pp. 56-60 ◽  
Author(s):  
Shruti Dutta ◽  
Swagata Sinha ◽  
Saurabh Ghosh ◽  
Anindita Chatterjee ◽  
Shabina Ahmed ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Analysis ◽  
Indian Population ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Prevalence of Returnable Genetic Results Based on Recognizable Phenotypes among Children with Autism Spectrum Disorder

2021 ◽  
Author(s):  
Somer Bishop ◽  
Audrey Thurm ◽  
Elise Robinson ◽  
Stephan Sanders
Keyword(s):  
Autism Spectrum Disorder ◽  
Genetic Testing ◽  
Autism Spectrum ◽  
Return Rate ◽  
Spectrum Disorder ◽  
Clinical Settings ◽  
Clinical Genetic ◽  
Genetic Evaluations ◽  
Large Research ◽  
Genetic Result

The importance of extensive genetic testing of autism spectrum disorder (ASD) cases has been demonstrated repeatedly in research settings but such testing in clinical settings remains sporadic. Determining which individuals should be prioritized for expensive tests remains a challenge. Several guidelines have been released relating to clinical genetic evaluations and testing in the context of ASD and these guidelines may be informed by the results of genetic testing in large research cohorts. The current study summarizes findings from over 2,000 individuals with ASD who received genetic testing, including microarray and exome testing, through the Simons Simplex Consortium. A returnable genetic result is identified in 10% of cases, however, this yield increases based on four readily accessible phenotypes: female sex and the presence of intellectual disability, seizures or delayed walking. Combinations of these factors increase return rate further, with some combinations yielding a return rate over 50%. In conclusion, these four phenotypes provide a simple approach to prioritize genetic testing in a clinical setting and inform future clinical guidelines. Providing a systematic approach to decisions about who to test removes barriers for, and therefore decrease disparities in, reimbursable genetic testing for individuals diagnosed with ASD.

scholarly journals Frequency of MTHFR GENE C677T Polymorphism for Non-Syndromic Autism Spectrum Disorder Patients

2015 ◽  
Vol 1 (2) ◽  
pp. 33
Author(s):  
Bremmy Laksono ◽  
Ani Melani Maskoen ◽  
Tri Indah Winarni ◽  
Syarief Taufik ◽  
Sultana MH Faradz
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Mthfr Gene ◽  
Folate Metabolism ◽  
Spectrum Disorder ◽  
C677t Polymorphism ◽  
Wild Type ◽  
Mutant Type ◽  
Syndromic Autism ◽  
Syndromic Asd

Background: The folate metabolism is a pathway that may involve in the non-syndromic Autism Spectrum Disorder (ASD). Methylenetetrahydrofolate reductase enzyme has a key role in folate metabolism. The C677T polymorphism of MTHFR gene could reduce the effectiveness of the enzyme.Objectives: To evaluate the frequency of MTHFR geneC677T polymorphism for non-syndromic ASD patients.Method: Thirty-four DNA samples were taken from each group. PCR mixture was consisted of 1µL DNA, 2.5µL PCR buffer, 0.5µL dNTP, 1.5µL MgCL2, 0.125µLTaqenzyme, 0.5µLofforwardandreverseprimerandaquabidesttoreach a volume of 25 µL. The PCR profiles were initiation 95ºC for 5 min, denaturation 94ºC for 1min, annealing 55ºCfor 45 seconds, and elongation 72ºC for30 seconds. The cycles were done in 35 times an dfinal elongation was at 72ºC for 5min. The PCR product was 198bp, and then digested by the Hinfl enzyme for 16hours at 37°C, and visualized using2%agarosegeland then electrophoresed for 30 minutes at 100 volts.Result: Non-syndromic ASD samples showed none had homozygote mutant type (677TT), 3 (8.8%) samples had heterozygote (677CT)and 31 (91.2%) samples had wild type (677CC). Meanwhile, normal control showed only 1 (2.9%)sample had homozygote mutant type(677TT), 9 (26.5%) samples had heterozygote (677CT)and 24 (70.6%) samples had  wild type (677CC).Conclusion: The frequency of MTHFR geneC677T polymorphism in patients with non-syndromic ASD and controls are not significantly different.

scholarly journals A Next Generation Sequencing-Based Protocol for Screening of Variants of Concern in Autism Spectrum Disorder

Cells ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 10
Author(s):  
Jie Huang ◽  
Jun Liu ◽  
Ruiyi Tian ◽  
Kevin Liu ◽  
Patrick Zhuang ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Clinical Symptoms ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Bioinformatics Pipeline ◽  
Syndromic Autism ◽  
Starting Point ◽  
Increasing Demand ◽  
Genetic Contributions

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation, tailored towards patients with ASD and offer very limited interpretation for clinical significance. Using WGS data from six family trios, we demonstrate the clinical feasibility and technical implementation of an evidence-based, fully transparent bioinformatics pipeline and report framework for an ASD-focused WGS genetic report. We confirmed a portion of the key variants with Sanger sequencing and provided interpretation with consideration of patients’ clinical symptoms and detailed literature review. Furthermore, we showed that identification of the genetic contributions of ASD core symptoms and comorbidities may promote a better understanding of the ASD pathophysiology, lead to early detection of associated comorbidities, and facilitate pharmacologic intervention based on pathological pathways inferred from the genetic information. We will make the bioinformatics pipeline and interpretation framework publicly available, in an easily accessible format, after validation with a larger cohort. We hope that the present proposed protocol can serve as a starting point to invite discourse and debate to further improve approaches in WGS-based genetic consultation for patients with ASD.

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