{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:20:32Z","timestamp":1790122832546,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T00:00:00Z","timestamp":1479254400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Neuroligins are post\u2010synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic signaling and is crucial for maintaining the excitation\u2010inhibition balance in the brain. Disruption of the excitation\u2010inhibition balance is associated with neuropsychiatric disease. In animal models, altered\n                      <jats:italic>NLGN2<\/jats:italic>\n                      expression causes anxiety, developmental delay, motor discoordination, social impairment, aggression, and sensory processing defects. In humans, mutations in\n                      <jats:italic>NLGN3<\/jats:italic>\n                      and\n                      <jats:italic>NLGN4<\/jats:italic>\n                      are linked to autism and schizophrenia;\n                      <jats:italic>NLGN2<\/jats:italic>\n                      missense variants are implicated in schizophrenia. Copy number variants encompassing\n                      <jats:italic>NLGN2<\/jats:italic>\n                      on 17p13.1 are associated with autism, intellectual disability, metabolic syndrome, diabetes, and dysmorphic features, but an isolated\n                      <jats:italic>NLGN2<\/jats:italic>\n                      nonsense variant has not yet been described in humans. Here, we describe a 15\u2010year\u2010old male with severe anxiety, obsessive\u2010compulsive behaviors, developmental delay, autism, obesity, macrocephaly, and some dysmorphic features. Exome sequencing identified a heterozygous, de novo, c.441C&gt;A p.(Tyr147Ter) variant in\n                      <jats:italic>NLGN2<\/jats:italic>\n                      that is predicted to cause loss of normal protein function. This is the first report of an\n                      <jats:italic>NLGN2<\/jats:italic>\n                      nonsense variant in humans, adding to the accumulating evidence that links synaptic proteins with a spectrum of neurodevelopmental phenotypes. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37977","type":"journal-article","created":{"date-parts":[[2016,11,16]],"date-time":"2016-11-16T15:02:59Z","timestamp":1479308579000},"page":"213-216","source":"Crossref","is-referenced-by-count":93,"title":["Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity"],"prefix":"10.1002","volume":"173","author":[{"given":"Daniel J.","family":"Parente","sequence":"first","affiliation":[{"name":"Department of Family Medicine University of Kansas Medical Center Kansas City Kansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caryn","family":"Garriga","sequence":"additional","affiliation":[{"name":"St. Louis Children's Hospital St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berivan","family":"Baskin","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganka","family":"Douglas","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan T.","family":"Cho","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel C.","family":"Araujo","sequence":"additional","affiliation":[{"name":"Department of Psychology St. Louis Children's Hospital St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan","family":"Shinawi","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine Department of Pediatrics Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,11,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2015.06.016"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11064-013-1029-9"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2008.00455.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0032-08.2008"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1136"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1071\/RD04040"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0056871"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.23868"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2015.31"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt056"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2014.05.001"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201206028"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1601-183X.2003.00037.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2739-05.2005"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.280537"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr208"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1219240"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14135"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/npp.2013.315"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2011.05.028"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbr.2012.07.024"}],"container-title":["American 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