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The purpose of this study was to obtain and exploit gene expression profiles of GnRH neurons during development to unveil novel biological mechanisms and genetic determinants underlying GD. Here, we combined bioinformatic analyses of immortalized and primary embryonic GnRH neuron transcriptomes with exome sequencing from GD patients to identify candidate genes implicated in the pathogenesis of GD. Among differentially expressed and filtered transcripts, we found loss-of-function (LoF) variants of the autism-linked neuroligin 3 (NLGN3) gene in two unrelated patients co-presenting with GD and neurodevelopmental traits. We demonstrated that NLGN3 is upregulated in maturing GnRH neurons and that NLGN3 wild-type, but not mutant, protein promotes neuritogenesis when overexpressed in developing GnRH cells. Our data represent proof of principle that this complementary approach can identify new candidate GD genes and demonstrate that LoF NLGN3 variants can contribute to GD. This novel genotype\u2013phenotype correlation implies common genetic mechanisms underlying neurodevelopmental disorders, such as GD and autistic spectrum disorder.<\/jats:p>","DOI":"10.1242\/dmm.049996","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T03:54:44Z","timestamp":1677038084000},"source":"Crossref","is-referenced-by-count":15,"title":["Autism-linked\n                    <i>NLGN3<\/i>\n                    is a key regulator of gonadotropin-releasing hormone deficiency"],"prefix":"10.1242","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5692-3328","authenticated-orcid":false,"given":"Roberto","family":"Oleari","sequence":"first","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7750-0423","authenticated-orcid":false,"given":"Antonella","family":"Lettieri","sequence":"additional","affiliation":[{"name":"CRC Aldo Ravelli for Neurotechnology and Experimental Brain Therapeutics 2 , Department of Health Sciences , , Milan 20142 , Italy"},{"name":"University of Milan 2 , Department of Health Sciences , , Milan 20142 , Italy"},{"name":"University of Milan 3 Department of Health Sciences , , Milan 20142 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1232-2635","authenticated-orcid":false,"given":"Stefano","family":"Manzini","sequence":"additional","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9393-9356","authenticated-orcid":false,"given":"Alyssa","family":"Paganoni","sequence":"additional","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Andr\u00e9","sequence":"additional","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9120-4217","authenticated-orcid":false,"given":"Paolo","family":"Grazioli","sequence":"additional","affiliation":[{"name":"University of Milan 3 Department of Health Sciences , , Milan 20142 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Busnelli","sequence":"additional","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Duminuco","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano 4 , Cusano Milanino 20095 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic G\u00e9nomique des Maladies Rares, F\u00e9d\u00e9ration Hospitalo-Universitaire (FHU) TRANSLAD, CHU Dijon Bourgogne 5 , Dijon 21079 , France"},{"name":"INSERM UMR 1231 GAD (G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement), Universit\u00e9 de Bourgogne 6 , Dijon 21070 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic G\u00e9nomique des Maladies Rares, F\u00e9d\u00e9ration Hospitalo-Universitaire (FHU) TRANSLAD, CHU Dijon Bourgogne 5 , Dijon 21079 , France"},{"name":"INSERM UMR 1231 GAD (G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement), Universit\u00e9 de Bourgogne 6 , Dijon 21070 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6335-7419","authenticated-orcid":false,"given":"Varoona","family":"Bizaoui","sequence":"additional","affiliation":[{"name":"Centre Hospitalier de l'Estran 7 Genetics and Neurodevelopment , , Pontorson 50170 , France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen L.","family":"Storr","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology William Harvey Research Institute Barts and the London School of Medicine and Dentistry, Queen Mary University of London 8 , London EC1M 6BQ , UK"},{"name":"Royal London Children's Hospital, Barts Health NHS Trust 9 , London E1 1BB , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6832-6053","authenticated-orcid":false,"given":"Federica","family":"Amoruso","sequence":"additional","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fani","family":"Memi","sequence":"additional","affiliation":[{"name":"Wellcome-MRC Cambridge Stem Cell Institute, Jeffrey Cheah Biomedical Centre 10 , Cambridge CB2 0AW , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Vezzoli","sequence":"additional","affiliation":[{"name":"Laboratory of Endocrine and Metabolic Research, IRCCS Istituto Auxologico Italiano 4 , Cusano 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R.","family":"Howard","sequence":"additional","affiliation":[{"name":"Centre for Endocrinology William Harvey Research Institute Barts and the London School of Medicine and Dentistry, Queen Mary University of London 8 , London EC1M 6BQ , UK"},{"name":"Royal London Children's Hospital, Barts Health NHS Trust 9 , London E1 1BB , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8630-8361","authenticated-orcid":false,"given":"Anna","family":"Cariboni","sequence":"additional","affiliation":[{"name":"University of Milan 1 Department of Pharmacological and Biomolecular Sciences , , Milan 20133 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2023,3,28]]},"reference":[{"key":"2023032809264090000_","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.ygcen.2009.01.012","article-title":"The zebrafish as a model system for forebrain GnRH neuronal 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