ArticleJournal of medical genetics2010
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Article in Journal of medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Involvement of tumor suppressor candidate 3 in mouse survival, craniofacial, and cortical development.G3 (Bethesda, Md.) · 2026Article
- Neurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes.Scientific reports · 2025Article
- A Multifaceted Giant Protein Microtubule-Actin Cross-Linking Factor 1.International journal of molecular sciences · 2025Review
- Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse.Frontiers in neurology · 2025Article
- Sensor-Based and Visual Behavioral Profiling of Dry Holstein Cows Presenting Distinct Median Core Body Temperatures.Animals : an open access journal from MDPI · 2024Article
- MACF1, Involved in the 1p34.2p34.3 Microdeletion Syndrome, is Essential in Cortical Progenitor Polarity and Brain Integrity.Cellular and molecular neurobiology · 2022Article
- Article
- Transcriptome Sequencing Analysis of the Effect ofGenetics research · 2022Article
- Both rare and common genetic variants contribute to autism in the Faroe Islands.NPJ genomic medicine · 2019Article
- The ASD Living Biology: from cell proliferation to clinical phenotype.Molecular psychiatry · 2019Review
- Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.Journal of inherited metabolic disease · 2018Article
- Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder.Frontiers in genetics · 2018Article
- Emerging Synaptic Molecules as Candidates in the Etiology of Neurological Disorders.Neural plasticity · 2017Review
- Bio-collections in autism research.Molecular autism · 2017Review
- Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities.Molecular cytogenetics · 2016Article
- Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.Experimental neurobiology · 2015Review
- First effects of rising amyloid-β in transgenic mouse brain: synaptic transmission and gene expression.Brain : a journal of neurology · 2015Article
- A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism.Translational psychiatry · 2014Article
- Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability.Molecular cytogenetics · 2014Article
- SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.Human molecular genetics · 2014Article
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10 authors.
Funding
Abstract
backgroundA child with autism and mild microcephaly was found to have a de novo 3.3 Mb microdeletion on chromosome 1p34.2p34.3. The hypothesis is tested that this microdeletion contains one or more genes that underlie the autism phenotype in this child and in other children with autism spectrum disorders.
methodsTo search for submicroscopic chromosomal rearrangements in the child, array comparative genomic hybridisation (aCGH) was performed using a 19 K whole genome human bacterial artificial chromosome (BAC) array and the Illumina 610-Quad BeadChip microarray. Ingenuity pathway analysis (IPA) was used to construct functional biological networks to identify candidate autism genes. To identify putative functional variants in candidate genes, mutation screening was performed using polymerase chain reaction (PCR) based Sanger sequencing in 512 unrelated autism patients and 462 control subjects.
resultsA de novo 3.3 Mb deletion containing approximately 43 genes in chromosome 1p34.2p34.3 was identified and subsequently confirmed using fluorescence in situ hybridization (FISH). Literature review and bioinformatics analyses identified Regulating Synaptic Membrane Exocytosis 3 (RIMS3) as the most promising autism candidate gene. Mutation screening of this gene in autism patients identified five inherited coding variants, including one (p.E177A) that segregated with the autism phenotype in a sibship, was predicted to be deleterious, and was absent in 1161 controls.
conclusionsThis case report and mutation screening data suggest that RIMS3 is an autism causative or contributory gene. Functional studies of RIMS3 variants such as p.E177A should provide additional insight into the role of synaptic proteins in the pathophysiology of autism.
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