Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Yin, Jiani C.; Chun, Chun-An; Zavadenko, N. N.; Pechatnikova, Natalia L.; Naumova, O. Yu.; Doddapaneni, Harshavardhan; Hu, Jianhong; Schaaf, Christian P.; Grigorenko, Elena L.

doi:10.3390/genes11080853

Cited by 17 publications

(12 citation statements)

References 41 publications

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“…Roak et al also found one case of SCN1A missense mutation (p.Pro1894Leu) in 20 patients with ASD, and this mutation may be inherited from its parent (88). A recent study of 134 cases of autism identified 16 variants and 12 genes with evidence of pathogenicity, including three SCN1A mutations (91). In summary, SCN1A is closely related to ASD and has been considered as an ASD candidate gene (6,7,11,89,90) (Figure 3, Table 2).…”

Section: Autism Spectrum Disordermentioning

confidence: 97%

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

Ding

Tian

et al. 2021

Front. Neurol.

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Background:SCN1A is one of the most common epilepsy genes. About 80% of SCN1A gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic encephalopathy. More than 1,800 mutations have been identified in SCN1A. Although it is known that SCN1A is the main cause of DS and genetic epilepsy with febrile seizures plus (GEFS+), there is a dearth of information on the other related diseases caused by mutations of SCN1A.Objective: The aim of this study is to systematically review the literature associated with SCN1A and other non-DS-related disorders.Methods: We searched PubMed and SCOPUS for all the published cases related to gene mutations of SCN1A until October 20, 2021. The results reported by each study were summarized narratively.Results: The PubMed and SCOPUS search yielded 2,889 items. A total of 453 studies published between 2005 and 2020 met the final inclusion criteria. Overall, 303 studies on DS, 93 on GEFS+, three on Doose syndrome, nine on the epilepsy of infancy with migrating focal seizures (EIMFS), six on the West syndrome, two on the Lennox–Gastaut syndrome (LGS), one on the Rett syndrome, seven on the nonsyndromic epileptic encephalopathy (NEE), 19 on hemiplegia migraine, six on autism spectrum disorder (ASD), two on nonepileptic SCN1A-related sudden deaths, and two on the arthrogryposis multiplex congenital were included.Conclusion: Aside from DS, SCN1A also causes other epileptic encephalopathies, such as GEFS+, Doose syndrome, EIMFS, West syndrome, LGS, Rett syndrome, and NEE. In addition to epilepsy, hemiplegic migraine, ASD, sudden death, and arthrogryposis multiplex congenital can also be caused by mutations of SCN1A.

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Section: Autism Spectrum Disordermentioning

confidence: 97%

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

Ding

Tian

et al. 2021

Front. Neurol.

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“…Interestingly, rare pathogenic deletions of the GRIN2A gene [ 137 , 138 , 139 , 140 , 141 , 142 ] and heterozygous de novo missense variants [ 143 ] have been implicated in childhood focal epilepsy. Moreover, next-generation sequencing of children with ASD has revealed variants in the GRIN2A gene with evidence that supports ASD pathogenicity [ 144 , 145 ]. Genetic studies have also found a genetic association between ASD and GRIK genes belonging to the kainate family of Glu receptors.…”

Section: The Genetics Of the Glutamatergic System In Asdmentioning

confidence: 99%

Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission

Montanari

Martella

Bonsi

et al. 2022

IJMS

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Disturbances in the glutamatergic system have been increasingly documented in several neuropsychiatric disorders, including autism spectrum disorder (ASD). Glutamate-centered theories of ASD are based on evidence from patient samples and postmortem studies, as well as from studies documenting abnormalities in glutamatergic gene expression and metabolic pathways, including changes in the gut microbiota glutamate metabolism in patients with ASD. In addition, preclinical studies on animal models have demonstrated glutamatergic neurotransmission deficits and altered expression of glutamate synaptic proteins. At present, there are no approved glutamatergic drugs for ASD, but several ongoing clinical trials are currently focusing on evaluating in autistic patients glutamatergic pharmaceuticals already approved for other conditions. In this review, we provide an overview of the literature concerning the role of glutamatergic neurotransmission in the pathophysiology of ASD and as a potential target for novel treatments.

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“…4 D; Table S4). Some cadherin family members in the TriM-2370 gene set, such as PCDH19 , are known to be high-risk ASD genes (Table S6) that play important roles in brain circuit development [ 35 , 36 ]. Several cadherin family members were also found in the TriM-2370 gene set, including many members of the protocadherin β gene cluster and dachsous cadherin-related 1 ( DCHS1 ), suggesting that these genes also participate in the development and function of brain circuits relevant to ASD.…”

Section: Resultsmentioning

confidence: 99%

Association of CDH11 with Autism Spectrum Disorder Revealed by Matched-gene Co-expression Analysis and Mouse Behavioral Studies

Wang

Jia

et al. 2021

Neurosci. Bull.

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A large number of putative risk genes for autism spectrum disorder (ASD) have been reported. The functions of most of these susceptibility genes in developing brains remain unknown, and causal relationships between their variation and autism traits have not been established. The aim of this study was to predict putative risk genes at the whole-genome level based on the analysis of gene co-expression with a group of high-confidence ASD risk genes (hcASDs). The results showed that three gene features – gene size, mRNA abundance, and guanine-cytosine content – affect the genome-wide co-expression profiles of hcASDs. To circumvent the interference of these features in gene co-expression analysis, we developed a method to determine whether a gene is significantly co-expressed with hcASDs by statistically comparing the co-expression profile of this gene with hcASDs to that of this gene with permuted gene sets of feature-matched genes. This method is referred to as "matched-gene co-expression analysis" (MGCA). With MGCA, we demonstrated the convergence in developmental expression profiles of hcASDs and improved the efficacy of risk gene prediction. The results of analysis of two recently-reported ASD candidate genes, CDH11 and CDH9, suggested the involvement of CDH11, but not CDH9, in ASD. Consistent with this prediction, behavioral studies showed that Cdh11-null mice, but not Cdh9-null mice, have multiple autism-like behavioral alterations. This study highlights the power of MGCA in revealing ASD-associated genes and the potential role of CDH11 in ASD.

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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Cited by 17 publications

References 41 publications

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission

Association of CDH11 with Autism Spectrum Disorder Revealed by Matched-gene Co-expression Analysis and Mouse Behavioral Studies

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