ArticleEuropean journal of human genetics : EJHG2013
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Motor cortex excitability and inhibitory imbalance in autism spectrum disorder assessed with transcranial magnetic stimulation: a systematic review.Translational psychiatry · 2019Pooled it
- GABAergic Inhibition Gates Perceptual Awareness During Binocular Rivalry.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Trial
- Cross-species functional analysis of aResearch square · 2026Article
- The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.NPJ genomic medicine · 2024Article
- Sex differences in susceptibility to substance use disorder: Role for X chromosome inactivation and escape?Molecular and cellular neurosciences · 2023Review
- Visual illusion susceptibility in autism: A neural model.The European journal of neuroscience · 2022Article
- Glycine neurotransmission: Its role in development.Frontiers in neuroscience · 2022Review
- Right Anterior Theta Hypersynchrony as a Quantitative Measure Associated with Autistic Traits and K-Cl Cotransporter KCC2 Polymorphism.Journal of autism and developmental disorders · 2022Article
- A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands.Scientific reports · 2021Article
- Placental DNA methylation changes and the early prediction of autism in full-term newborns.PloS one · 2021Article
- Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.Scientific reports · 2020Article
- Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2020Article
- Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior.Scientific reports · 2020Article
- Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.American journal of human genetics · 2019Article
- Transcriptional Regulation of Channelopathies in Genetic and Acquired Epilepsies.Frontiers in cellular neuroscience · 2019Review
- The Autism-Related Protein PX-RICS Mediates GABAergic Synaptic Plasticity in Hippocampal Neurons and Emotional Learning in Mice.EBioMedicine · 2018Article
- Von Economo Neurons and Fork Cells: A Neurochemical Signature Linked to Monoaminergic Function.Cerebral cortex (New York, N.Y. : 1991) · 2018Article
- Sensory perception in autism.Nature reviews. Neuroscience · 2017Review
- Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2017Article
- Lysine Acetylation and Deacetylation in Brain Development and Neuropathies.Genomics, proteomics & bioinformatics · 2017Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. In this report, we evaluated the impact of these rare missense and silent variants on gene splicing. For this purpose, we used complementary in silico analyses, in vitro minigene-based assays and RNA prepared from lymphoblastoid cells derived from patients with these mutations. Our goal was to identify the variants which might either create or disrupt an acceptor splice site, a donor splice site or an exonic splicing enhancer, thus leading to aberrant splicing that could be involved in the pathogenesis of ASD or SCZ. We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3, in two different families. Furthermore, missense and silent variants in nuclear RNA export factor 5 and histone deacetylase 6 were shown to partially disrupt the protein. While genes from the GABAergic pathway have previously been thought to be involved in the pathophysiology of ASD, this is the first report of ASD patients with truncating mutations in GABA receptors genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.