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Aug 20, 2019 · Genetic modifiers in autism spectrum disorder. Autism is estimated to be 40–80% heritable. However, both genetic and non-genetic factors modulate the penetrance of risk genes, resulting in a highly heterogeneous disease phenotype for similar pathogenic variants. Examples of genetic modulators include CNV, epigenetics, and double-hit mutations.
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Genetic modifiers in autism spectrum disorder. Autism is...
- PMC Free Article
INTRODUCTION. Tuberous sclerosis complex (TSC) is a highly...
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Feb 26, 2021 · Here, we summarize the findings on genetic risk for autism from linkage and candidate gene studies, common and rare genetic variation studies, epigenomics, and transcriptomics. A glossary of important terms is in Box 1.
- A. Havdahl, A. Havdahl, M. Niarchou, A. Starnawska, A. Starnawska, M. Uddin, C. van der Merwe, V. Wa...
- 10.1017/S0033291721000192
- 2021
- Psychol Med. 2021 Oct; 51(13): 2260-2273.
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Aug 20, 2019 · In this review, we will describe the genetic landscape of ASD and discuss how genetic modifiers such as copy number variation, single nucleotide polymorphisms, and epigenetic alterations likely play a key role in modulating the phenotypic spectrum of ASD patients.
- Lauren Rylaarsdam, Alicia Guemez-Gamboa
- 2019
Jan 10, 2019 · The genetic etiology is recognized in ~ 25–35% of patients with ASD. In this article, we review the current state of knowledge about the genetic etiology of ASD and also propose a diagnostic algorithm for patients. Keywords: Autism spectrum disorders, Copy number variants, Single nucleotide variants, Heritability, Synapse. Go to: Introduction.
- Barbara Wiśniowiecka-Kowalnik, Beata Anna Nowakowska
- 2019
- Study Design
- Search Strategy
- Study Selection
- Quality Assessment
- Data Extraction
- Over-Representation Analysis
This study was performed as a systematic review of the literature. The protocol registration can be found under the PROSPERO ID CRD42020206689.
To identify relevant articles for inclusion in this systematic review, a search was performed in PubMed using the following MeSH terms: (“Autism Spectrum Disorder,” OR “Autistic disorder,” OR “Rett Syndrome”) AND “Polymorphisms (Genetics).” Additionally, the search results were filtered using three criteria: (1) studies published during the last 20...
Articles were included in our systematic review if they fulfilled the following study criteria: (1) Patients with an ASD diagnosis, according to the Diagnostic and Statistical Manual of Mental Disorders criteria (DSM-IV or DSM-5), the International Classification of Diseases (ICD) criteria, Childhood Autism Rating Scale (CARS), Autism Diagnostic In...
Quality assessment was performed using the Joanna Briggs Institute clinical appraisal tools. Studies were divided among all the team members, and the results of the quality assessment were discussed during weekly meetings. The reasons for article exclusion based on quality were always explicitly considered. In case of doubt, the article was indepen...
Data were extracted from the included articles to obtain the following information: study design, characteristics of the studied population, study objective, genetic tests performed, genes studied, and variations identified. A data set of genes associated with ASD and common genetic variations was generated for the over-representation analysis. Gen...
The biological interpretation of identified genes was performed using the Functional Annotation Tool from the Database for Annotation, Visualization, and Integrated Discovery (DAVID) [12, 13]. Within DAVID, the Kyoto Encyclopedia of Genes and Genomes (KEGG), Gene Ontology (GO) Biological Process (BP), and GO Cellular Component (CC) databases were c...
- Diego Alejandro Rodriguez-Gomez, Danna Paola Garcia-Guaqueta, Jesús David Charry-Sánchez, Elias Sarq...
- 2021
Jun 15, 2022 · 9 Altmetric. Metrics. Abstract. Autism spectrum disorder (ASD) is a class of neurodevelopmental conditions with a large epidemiological and societal impact worldwide. To date, numerous studies...
Aug 1, 2019 · Examples of genetic modulators include CNV, epigenetics, and double-hit mutations. Examples of non-genetic modifiers include environmental exposures and sex-linked modifiers.