Alternative name(s) : Neuroligin 4 Asperger syndrome ASPGX2, Autism, susceptibility to, X-linked 2\; AUTSX2, Asperger syndrome, X-linked, susceptibility to, 2
Gene_locus : human-NLGN4X , human-NLGN4Y
Mutation : 12 mutations R101Q_human-NLGN4X fs1186T_human-NLGN4X del1254AG_human-NLGN4X R704C_human-NLGN4X G99S_human-NLGN4X K378R_human-NLGN4X V403M_human-NLGN4X 445kbdel_human-NLGN4X I679V_human-NLGN4Y L593F_human-NLGN4X V109L_human-NLGN4X V454_A457del_human-NLGN4X
OMIM : 300427 , 300425 , 300495
Comment
(from OMIM) In 2 brothers with autism, one with typical autism and the other with Asperger syndrome, Jamain et al. (2003) identified a frameshift mutation (1186T) in the human-NLGN4X gene, resulting in a stop codon at position 396 and premature truncation of the protein before the transmembrane domain. The mutation was present in the mother and absent in an unaffected brother and 350 controls. See other contradictory results Gauthier et al. Vincent et al., but other mutations found Laumonnier et al. Yan et al. Incomplete penetrance suspected for some mutations. Recently new findings support the neuroligin pathway in autism. In particular the R451C mutant mice (R451C_mouse-3neur<\/A> identical to human mutation R451C_human-NLGN3<\/A>) showed impaired social interactions but enhanced spatial learning abilities. Tabuchi et al.<\/A> Comments in Garber et al.<\/A>, Crawley et al.<\/A> (OMIM 300497 incorporated in 300495)| Title : Towards understanding sex differences in autism spectrum disorders - Leow_2024_Brain.Res_1833_148877 |
| Author(s) : Leow KQ , Tonta MA , Lu J , Coleman HA , Parkington HC |
| Ref : Brain Research , 1833 :148877 , 2024 |
| Abstract : Leow_2024_Brain.Res_1833_148877 |
| ESTHER : Leow_2024_Brain.Res_1833_148877 |
| PubMedSearch : Leow_2024_Brain.Res_1833_148877 |
| PubMedID: 38513995 |
| Title : An Autism-Associated Mutation Impairs Neuroligin-4 Glycosylation and Enhances Excitatory Synaptic Transmission in Human Neurons - Cast_2021_J.Neurosci_41_392 |
| Author(s) : Cast TP , Boesch DJ , Smyth K , Shaw AE , Ghebrial M , Chanda S |
| Ref : Journal of Neuroscience , 41 :392 , 2021 |
| Abstract : Cast_2021_J.Neurosci_41_392 |
| ESTHER : Cast_2021_J.Neurosci_41_392 |
| PubMedSearch : Cast_2021_J.Neurosci_41_392 |
| PubMedID: 33268543 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization - Kopp_2020_Am.J.Med.Genet.A__e62025 |
| Author(s) : Kopp N , Amarillo I , Martinez-Agosto J , Quintero-Rivera F |
| Ref : American Journal of Medicine Genet A , :e62025 , 2020 |
| Abstract : Kopp_2020_Am.J.Med.Genet.A__e62025 |
| ESTHER : Kopp_2020_Am.J.Med.Genet.A__e62025 |
| PubMedSearch : Kopp_2020_Am.J.Med.Genet.A__e62025 |
| PubMedID: 33369065 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y - Nguyen_2020_Neuron_106_759 |
| Author(s) : Nguyen TA , Wu K , Pandey S , Lehr AW , Li Y , Bemben MA , Badger JD, 2nd , Lauzon JL , Wang T , Zaghloul KA , Thurm A , Jain M , Lu W , Roche KW |
| Ref : Neuron , 106 :759 , 2020 |
| Abstract : Nguyen_2020_Neuron_106_759 |
| ESTHER : Nguyen_2020_Neuron_106_759 |
| PubMedSearch : Nguyen_2020_Neuron_106_759 |
| PubMedID: 32243781 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : Y chromosome gene copy number and lack of autism phenotype in a male with an isodicentric Y chromosome and absent NLGN4Y expression - Ross_2019_Am.J.Med.Genet.B.Neuropsychiatr.Genet_180_471 |
| Author(s) : Ross JL , Bloy L , Roberts TPL , Miller J , Xing C , Silverman LA , Zinn AR |
| Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 180 :471 , 2019 |
| Abstract : Ross_2019_Am.J.Med.Genet.B.Neuropsychiatr.Genet_180_471 |
| ESTHER : Ross_2019_Am.J.Med.Genet.B.Neuropsychiatr.Genet_180_471 |
| PubMedSearch : Ross_2019_Am.J.Med.Genet.B.Neuropsychiatr.Genet_180_471 |
| PubMedID: 31161682 |
| Gene_locus related to this paper: human-NLGN4Y |
| Title : Analysis of the genes encoding neuroligins NLGN3 and NLGN4 in Bulgarian patients with autism - Avdjieva-Tzavella_2012_Genet.Couns_23_505 |
| Author(s) : Avdjieva-Tzavella DM , Todorov TP , Todorova AP , Kirov AV , Hadjidekova SP , Rukova BB , Litvinenko IO , Hristova-Naydenova DN , Tincheva RS , Toncheva DI |
| Ref : Genet Couns , 23 :505 , 2012 |
| Abstract : Avdjieva-Tzavella_2012_Genet.Couns_23_505 |
| ESTHER : Avdjieva-Tzavella_2012_Genet.Couns_23_505 |
| PubMedSearch : Avdjieva-Tzavella_2012_Genet.Couns_23_505 |
| PubMedID: 23431752 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : Adhesion molecules in the nervous system: structural insights into function and diversity - Shapiro_2007_Annu.Rev.Neurosci_30_451 |
| Author(s) : Shapiro L , Love J , Colman DR |
| Ref : Annual Review of Neuroscience , 30 :451 , 2007 |
| Abstract : Shapiro_2007_Annu.Rev.Neurosci_30_451 |
| ESTHER : Shapiro_2007_Annu.Rev.Neurosci_30_451 |
| PubMedSearch : Shapiro_2007_Annu.Rev.Neurosci_30_451 |
| PubMedID: 17600523 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations - Yamakawa_2007_Biochem.Biophys.Res.Commun_355_41 |
| Author(s) : Yamakawa H , Oyama S , Mitsuhashi H , Sasagawa N , Uchino S , Kohsaka S , Ishiura S |
| Ref : Biochemical & Biophysical Research Communications , 355 :41 , 2007 |
| Abstract : Yamakawa_2007_Biochem.Biophys.Res.Commun_355_41 |
| ESTHER : Yamakawa_2007_Biochem.Biophys.Res.Commun_355_41 |
| PubMedSearch : Yamakawa_2007_Biochem.Biophys.Res.Commun_355_41 |
| PubMedID: 17292328 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Neuroscience. Autism's cause may reside in abnormalities at the synapse - |
| Author(s) : Garber K |
| Ref : Science , 317 :190 , 2007 |
| PubMedID: 17626859 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Synaptic arrangement of the neuroligin\/beta-neurexin complex revealed by X-ray and neutron scattering - Comoletti_2007_Structure_15_693 |
| Author(s) : Comoletti D , Grishaev A , Whitten AE , Tsigelny I , Taylor P , Trewhella J |
| Ref : Structure , 15 :693 , 2007 |
| Abstract : Comoletti_2007_Structure_15_693 |
| ESTHER : Comoletti_2007_Structure_15_693 |
| PubMedSearch : Comoletti_2007_Structure_15_693 |
| PubMedID: 17562316 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice - Tabuchi_2007_Science_318_71 |
| Author(s) : Tabuchi K , Blundell J , Etherton MR , Hammer RE , Liu X , Powell CM , Sudhof TC |
| Ref : Science , 318 :71 , 2007 |
| Abstract : Tabuchi_2007_Science_318_71 |
| ESTHER : Tabuchi_2007_Science_318_71 |
| PubMedSearch : Tabuchi_2007_Science_318_71 |
| PubMedID: 17823315 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Neurexin-neuroligin signaling in synapse development - Craig_2007_Curr.Opin.Neurobiol_17_43 |
| Author(s) : Craig AM , Kang Y |
| Ref : Current Opinion in Neurobiology , 17 :43 , 2007 |
| Abstract : Craig_2007_Curr.Opin.Neurobiol_17_43 |
| ESTHER : Craig_2007_Curr.Opin.Neurobiol_17_43 |
| PubMedSearch : Craig_2007_Curr.Opin.Neurobiol_17_43 |
| PubMedID: 17275284 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Medicine. Testing hypotheses about autism - |
| Author(s) : Crawley JN |
| Ref : Science , 318 :56 , 2007 |
| PubMedID: 17916718 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Neurexin Ibeta and neuroligin are localized on opposite membranes in mature central synapses - Berninghausen_2007_J.Neurochem_103_1855 |
| Author(s) : Berninghausen O , Rahman MA , Silva JP , Davletov B , Hopkins C , Ushkaryov YA |
| Ref : Journal of Neurochemistry , 103 :1855 , 2007 |
| Abstract : Berninghausen_2007_J.Neurochem_103_1855 |
| ESTHER : Berninghausen_2007_J.Neurochem_103_1855 |
| PubMedSearch : Berninghausen_2007_J.Neurochem_103_1855 |
| PubMedID: 17868325 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Neuroligin-3 is a neuronal adhesion protein at GABAergic and glutamatergic synapses - Budreck_2007_Eur.J.Neurosci_26_1738 |
| Author(s) : Budreck EC , Scheiffele P |
| Ref : European Journal of Neuroscience , 26 :1738 , 2007 |
| Abstract : Budreck_2007_Eur.J.Neurosci_26_1738 |
| ESTHER : Budreck_2007_Eur.J.Neurosci_26_1738 |
| PubMedSearch : Budreck_2007_Eur.J.Neurosci_26_1738 |
| PubMedID: 17897391 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients - |
| Author(s) : Yan J , Oliveira G , Coutinho A , Yang C , Feng J , Katz C , Sram J , Bockholt A , Jones IR , Craddock N , Cook EH, Jr. , Vicente A , Sommer SS |
| Ref : Mol Psychiatry , 10 :329 , 2005 |
| PubMedID: 15622415 |
| Gene_locus related to this paper: human-NLGN3 , human-NLGN4X |
| Title : Analysis of four neuroligin genes as candidates for autism - Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| Author(s) : Ylisaukko-oja T , Rehnstrom K , Auranen M , Vanhala R , Alen R , Kempas E , Ellonen P , Turunen JA , Makkonen I , Riikonen R , Nieminen-von Wendt T , von Wendt L , Peltonen L , Jarvela I |
| Ref : Eur J Hum Genet , 13 :1285 , 2005 |
| Abstract : Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| ESTHER : Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| PubMedSearch : Ylisaukko-oja_2005_Eur.J.Hum.Genet_13_1285 |
| PubMedID: 16077734 |
| Gene_locus related to this paper: human-NLGN4Y , human-NLGN1 , human-NLGN3 , human-NLGN4X |
| Title : NLGN3\/NLGN4 gene mutations are not responsible for autism in the Quebec population - Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74 |
| Author(s) : 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 |
| Abstract : Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74 |
| ESTHER : Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74 |
| PubMedSearch : Gauthier_2005_Am.J.Med.Genet.B.Neuropsychiatr.Genet_132B_74 |
| PubMedID: 15389766 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : Do known mutations in neuroligin genes (NLGN3 and NLGN4) cause autism? - |
| Author(s) : Talebizadeh Z , Bittel DC , Veatch OJ , Butler MG , Takahashi TN , Miles JH |
| Ref : J Autism Dev Disord , 34 :735 , 2004 |
| PubMedID: 15679194 |
| Title : X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family - Laumonnier_2004_Am.J.Hum.Genet_74_552 |
| Author(s) : Laumonnier F , Bonnet-Brilhault F , Gomot M , Blanc R , David A , Moizard MP , Raynaud M , Ronce N , Lemonnier E , Calvas P , Laudier B , Chelly J , Fryns JP , Ropers HH , Hamel BC , Andres C , Barthelemy C , Moraine C , Briault S |
| Ref : American Journal of Human Genetics , 74 :552 , 2004 |
| Abstract : Laumonnier_2004_Am.J.Hum.Genet_74_552 |
| ESTHER : Laumonnier_2004_Am.J.Hum.Genet_74_552 |
| PubMedSearch : Laumonnier_2004_Am.J.Hum.Genet_74_552 |
| PubMedID: 14963808 |
| Gene_locus related to this paper: human-NLGN4X |
| Title : Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probands - Vincent_2004_Am.J.Med.Genet.B.Neuropsychiatr.Genet_129B_82 |
| Author(s) : Vincent JB , Kolozsvari D , Roberts WS , Bolton PF , Gurling HM , Scherer SW |
| Ref : American Journal of Medicine Genet B Neuropsychiatr Genet , 129B :82 , 2004 |
| Abstract : Vincent_2004_Am.J.Med.Genet.B.Neuropsychiatr.Genet_129B_82 |
| ESTHER : Vincent_2004_Am.J.Med.Genet.B.Neuropsychiatr.Genet_129B_82 |
| PubMedSearch : Vincent_2004_Am.J.Med.Genet.B.Neuropsychiatr.Genet_129B_82 |
| PubMedID: 15274046 |
| Title : Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism - Jamain_2003_Nat.Genet_34_27 |
| Author(s) : Jamain S , Quach H , Betancur C , Rastam M , Colineaux C , Gillberg IC , Soderstrom H , Giros B , Leboyer M , Gillberg C , Bourgeron T |
| Ref : Nat Genet , 34 :27 , 2003 |
| Abstract : Jamain_2003_Nat.Genet_34_27 |
| ESTHER : Jamain_2003_Nat.Genet_34_27 |
| PubMedSearch : Jamain_2003_Nat.Genet_34_27 |
| PubMedID: 12669065 |
| Gene_locus related to this paper: human-NLGN2 , human-NLGN4X , human-NLGN4Y , mouse-4neur , human-NLGN3 |