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Cited by 5Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Database-assisted screening of autism spectrum disorder related gene set

Open access
Kereszturi, Éva·2024·Molecular Brain
DOI 10.1186/s13041-024-01127-0PMC PMC11316361
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Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social and communication difficulties, along with repetitive behaviors. While genetic factors play a significant role in ASD, the precise genetic landscape remains complex and not fully understood, particularly in non-syndromic cases. The study performed an in silico comparison of three genetic databases. ClinVar, SFARI Gene, and AutDB were utilized to identify relevant gene subset and genetic variations associated with non-syndromic ASD. Gene set enrichment analysis (GSEA) and protein–protein interaction (PPI) network analysis were conducted to elucidate the biological significance of the identified genes. The integrity of ASD-related gene subset and the distribution of their variations were statistically assessed. A subset of twenty overlapping genes potentially specific for non-syndromic ASD was identified. GSEA revealed enrichment of biological processes related to neuronal development and differentiation, synaptic function, and social skills, highlighting their importance in ASD pathogenesis. PPI network analysis demonstrated functional relationships among the identified genes. Analysis of genetic variations showed predominance of rare variants and database-specific distribution patterns. The results provide valuable insights into the genetic landscape of ASD and outline the genes and biological processes involved in the condition, while taking into account that the study relied exclusively on in silico analyses, which may be subject to biases inherent to database methodologies. Further research incorporating multi-omics data and experimental validation is warranted to enhance our understanding of non-syndromic ASD genetics and facilitate the development of targeted research, interventions and therapies.

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  • Non-syndromic ASD is characterized by the absence of consistent syndromic diagnoses or systemic anomalies.

    “Non-syndromic ASD is characterized by the absence of consistent syndromic diagnoses or systemic anomalies (Kereszturi, 2024).”

    From Biological hierarchy from genotype to phenotype in syndromic and non-syndromic autism spectrum disorder (2026) · cites this paper as Kereszturi, 2024

    The Background distinguishes non-syndromic ASD from ASD-associated syndromes and describes genes relevant to ASD independently of syndromic conditions. It does not characterize non-syndromic ASD by the absence of systemic anomalies, so that part of the definition is unsupported by our copy. (LLM, conf=0.84)

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Cited by

Sorted by citations

Authors
Kereszturi, É.
Affiliations
Semmelweis University (HU)
Corresponding author
Kereszturi, Éva
ORCID
Kereszturi, Éva
Venue
Molecular Brain
Publisher
Springer Science and Business Media LLC
Published
2024-08-09
Volume
17
Issue
1
Pages
55-55
ISSN
1756-6606 (ISSN-L)
DOI
10.1186/s13041-024-01127-0
PMC
PMC11316361
OpenAlex
W4401458042
Cited by
5
References
4
Citations by year
2026: 2 · 2025: 3
FWCI
1.21
Type
journal article
Language
en
Open access
Licence
Locations
  • Molecular Brain (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders
Semmelweis University
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
autism spectrum disorder, non-syndromic autism, genetic databases, ClinVar, gene set enrichment analysis, protein-protein interaction network, rare variants, neuronal development, synaptic function, social skills
MeSH terms
Autism Spectrum Disorder, Genetic Testing, Humans, Genetic Variation, Genetic Predisposition to Disease, Databases, Genetic, Gene Regulatory Networks, Protein Interaction Maps

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