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Disease Report for: Neuroligin 3 Autism AUTSX1 Asperger syndrome ASPGX1

Alternative name(s)|Asperger syndrome susceptibility, X-linked 1 ASPGX1
Autism, susceptibility to, X-linked; AUTSX1
Autism Spectrum Disorder
Mutation|3 mutations: P514S_human-NLGN3, R451C_human-NLGN3, R597W_human-NLGN3
OMIM: |300336, 300425

(from OMIM) In 2 brothers with autism, one with typical autism and the other with Asperger syndrome, Jamain et al. (2003) identified a mutation in the human-NLGN3 gene. Recently new findings support the neuroligin pathway in autism. In particular the R451C mutant mice (R451C_mouse-3neur identical to human mutation R451C_human-NLGN3) showed impaired social interactions but enhanced spatial learning abilities. Tabuchi et al. Comments in Garber et al., Crawley et al. (OMIM 300494 incorporated in 300425

    Title: Mice with an autism-associated R451C mutation in neuroligin-3 show a cautious but accurate response style in touchscreen attention tasks
    Burrows EL, May C, Hill T, Churliov L, Johnson KA, Hannan AJ
    Ref: Genes Brain Behav, :e12757, 2021 : PubMed


    Title: Genetic analysis of the postsynaptic transmembrane X-linked neuroligin 3 gene in autism
    Hegde R, Hegde S, Kulkarni SS, Pandurangi A, Gai PB, Das KK
    Ref: Genomics Inform, 19:e44, 2021 : PubMed


    Title: An Autism-Associated Neuroligin-3 Mutation Affects Developmental Synapse Elimination in the Cerebellum
    Lai ESK, Nakayama H, Miyazaki T, Nakazawa T, Tabuchi K, Hashimoto K, Watanabe M, Kano M
    Ref: Front Neural Circuits, 15:676891, 2021 : PubMed


    Title: Environmental enrichment modulates affiliative and aggressive social behaviour in the neuroligin-3 R451C mouse model of autism spectrum disorder
    Burrows EL, Koyama L, May C, Hill-Yardin EL, Hannan AJ
    Ref: Pharmacol Biochem Behav, 195:172955, 2020 : PubMed


    Title: Altered Caecal Neuroimmune Interactions in the Neuroligin-3(R451C) Mouse Model of Autism
    Sharna SS, Balasuriya GK, Hosie S, Nithianantharajah J, Franks AE, Hill-Yardin EL
    Ref: Front Cell Neurosci, 14:85, 2020 : PubMed


    Title: The neuroligins and the synaptic pathway in Autism Spectrum Disorder
    Trobiani L, Meringolo M, Diamanti T, Bourne Y, Marchot P, Martella G, Dini L, Pisani A, De Jaco A, Bonsi P
    Ref: Neurosci Biobehav Rev, 119:37, 2020 : PubMed


    Title: Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
    Quartier A, Courraud J, Thi Ha T, McGillivray G, Isidor B, Rose K, Drouot N, Savidan MA, Feger C and Piton A <6 more author(s)>
    Ref: Hum Mutat, 40:2021, 2019 : PubMed


    Title: Altered Amygdala Excitation and CB1 Receptor Modulation of Aggressive Behavior in the Neuroligin-3(R451C) Mouse Model of Autism
    Hosie S, Malone DT, Liu S, Glass M, Adlard PA, Hannan AJ, Hill-Yardin EL
    Ref: Front Cell Neurosci, 12:234, 2018 : PubMed


    Title: The neurobiological bases of autism spectrum disorders: the R451C-neuroligin 3 mutation hampers the expression of long-term synaptic depression in the dorsal striatum
    Martella G, Meringolo M, Trobiani L, De Jaco A, Pisani A, Bonsi P
    Ref: European Journal of Neuroscience, 47:701, 2018 : PubMed


    Title: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
    Redin C, Gerard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G and Piton A <37 more author(s)>
    Ref: Journal of Medical Genetics, 51:724, 2014 : PubMed


    Title: Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
    Etherton M, Foldy C, Sharma M, Tabuchi K, Liu X, Shamloo M, Malenka RC, Sudhof TC
    Ref: Proc Natl Acad Sci U S A, 108:13764, 2011 : PubMed


    Title: Neurexin Ibeta and neuroligin are localized on opposite membranes in mature central synapses
    Berninghausen O, Rahman MA, Silva JP, Davletov B, Hopkins C, Ushkaryov YA
    Ref: Journal of Neurochemistry, 103:1855, 2007 : PubMed


    Title: Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses
    Budreck EC, Scheiffele P
    Ref: European Journal of Neuroscience, 26:1738, 2007 : PubMed


    Title: Synaptic arrangement of the neuroligin/beta-neurexin complex revealed by X-ray and neutron scattering
    Comoletti D, Grishaev A, Whitten AE, Tsigelny I, Taylor P, Trewhella J
    Ref: Structure, 15:693, 2007 : PubMed


    Title: Neurexin-neuroligin signaling in synapse development
    Craig AM, Kang Y
    Ref: Current Opinion in Neurobiology, 17:43, 2007 : PubMed


    Title: Medicine. Testing hypotheses about autism
    Crawley JN
    Ref: Science, 318:56, 2007 : PubMed


    Title: Neuroscience. Autism's cause may reside in abnormalities at the synapse
    Garber K
    Ref: Science, 317:190, 2007 : PubMed


    Title: Adhesion molecules in the nervous system: structural insights into function and diversity
    Shapiro L, Love J, Colman DR
    Ref: Annual Review of Neuroscience, 30:451, 2007 : PubMed


    Title: A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
    Tabuchi K, Blundell J, Etherton MR, Hammer RE, Liu X, Powell CM, Sudhof TC
    Ref: Science, 318:71, 2007 : PubMed


    Title: Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations
    Yamakawa H, Oyama S, Mitsuhashi H, Sasagawa N, Uchino S, Kohsaka S, Ishiura S
    Ref: Biochemical & Biophysical Research Communications, 355:41, 2007 : PubMed


    Title: NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
    Gauthier J, Bonnel A, St-Onge J, Karemera L, Laurent S, Mottron L, Fombonne E, Joober R, Rouleau GA
    Ref: American Journal of Medicine Genet B Neuropsychiatr Genet, 132B:74, 2005 : PubMed


    Title: Analysis of four neuroligin genes as candidates for autism
    Ylisaukko-oja T, Rehnstrom K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I and Jarvela I <4 more author(s)>
    Ref: Eur J Hum Genet, 13:1285, 2005 : PubMed


    Title: Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism?
    Talebizadeh Z, Bittel DC, Veatch OJ, Butler MG, Takahashi TN, Miles JH
    Ref: J Autism Dev Disord, 34:735, 2004 : PubMed


    Title: Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands
    Vincent JB, Kolozsvari D, Roberts WS, Bolton PF, Gurling HM, Scherer SW
    Ref: American Journal of Medicine Genet B Neuropsychiatr Genet, 129B:82, 2004 : PubMed


    Title: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M and Bourgeron T <1 more author(s)>
    Ref: Nat Genet, 34:27, 2003 : PubMed


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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