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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Open accessAbstract
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. These mutations affect cell-adhesion molecules localized at the synapse and suggest that a defect of synaptogenesis may predispose to autism.
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“the contribution of rare, de novo mutations in coding regions of the genome is relatively greater among a range of early-onset disorders 43 -45 than for typically later-onset common conditions such as schizophrenia and bipolar disorder”
From Autism spectrum disorder (2020) · cites this paper as [45]
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“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [12]
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“Rare mutations have been identified in synaptic genes, including NLGN3 , NLGN4X (ref. 4) and SHANK3 (ref. 5)”
From Functional impact of global rare copy number variation in autism spectrum disorders (2010) · cites this paper as [4]
In the citing paper
“Y chromosome genes that could contribute to sex bias in neurodevelopmental conditions include NLGN4Y, an autism candidate gene246, and SRY247, a brain-expressed gene that stimulates male gonadal development and fetal testosterone production.”
From Sex and gender in neurodevelopmental conditions (2023) · cites this paper as [246]
In the citing paper
“In addition to Shank39, it is worth noting that Shank26,8, SAPAP26, Neurexin-126, Neuroligin-3 and −427 have all been implicated in human ASDs.”
From Shank3 mutant mice display autistic-like behaviours and striatal dysfunction (2011) · cites this paper as [27]
In the citing paper
“One of these was a nonsense mutation in NLGN4X (p.Q329X), found in a single affected male child. NLGN4X is an X-linked gene encoding a neuronal synaptic adhesion molecule, and mutations in NLGN4X have been described in individuals with autism, Asperger syndrome, and intellectual disability (Jamain et al., 2003). This mutation was inherited from an unaffected mother, consistent with prior”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as Jamain et al., 2003
In the citing paper
“Various genetic approaches have been successful in identifying the causes of more than 1,000 Mendelian, and fewer non-Mendelian, forms of neurodevelopmental disorders: prototypical examples are intellectual disability62–68, autism spectrum disorder (ASD)69–77, epilepsy78,79 and schizophrenia80–82.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [69]
In the citing paper
“the first mutations identified in idiopathic autism involve synaptic genes like NLGN3 and NLGN4X,27,28 or SHANK329-31”
From Autism risk factors: genes, environment, and gene-environment interactions (2012) · cites this paper as [27]
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Metadata
- Authors
- Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C., & Bourgeron, T.
- Affiliations
- Inserm (FR)
- University of Gothenburg (SE)
- St George's Hospital (GB)
- Corresponding author
- Bourgeron, Thomas
- ORCID
- Venue
- Nature Genetics
- Published
- 2003-03-31
- Volume
- 34
- Issue
- 1
- Pages
- 27-29
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC1925054
- OpenAlex
- W2125147395
- Cited by
- 1,851
- References
- 18
- Citations by year
- 2026: 32 · 2025: 36 · 2024: 47 · 2023: 60 · 2022: 79 · 2021: 80 · 2020: 78 · 2019: 55 · 2018: 75 · 2017: 94 · 2016: 82 · 2015: 99 · 2014: 97 · 2013: 114 · 2012: 131
- FWCI
- 30.13
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- CINECA IRIS Institutial research information system (University of Pisa) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Orange
- Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- autism spectrum disorder, neuroligin-3, neuroligin 4, X-linked mutations, X-linked inheritance, siblings, synaptogenesis, synapses, adhesion molecules, genetic etiology of autism
- MeSH terms
- Amino Acid Sequence, Autistic Disorder, Base Sequence, Brain, Carrier Proteins, Female, Humans, Genetic Linkage, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, RNA, Messenger, Cell Adhesion Molecules, Neuronal, Sequence Homology, Amino Acid, DNA, Complementary, Gene Expression Profiling, Chromosomes, Human, X
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