{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:20:09Z","timestamp":1790814009437,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"19","license":[{"start":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T00:00:00Z","timestamp":1653264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009867","name":"Regional Agency for Health and Social Care","doi-asserted-by":"publisher","award":["RC14_0107"],"award-info":[{"award-number":["RC14_0107"]}],"id":[{"id":"10.13039\/501100009867","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,9,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Intellectual disability (ID) is a neurodevelopmental disorder frequently caused by monogenic defects. In this study, we collected 14 SEMA6B heterozygous variants in 16 unrelated patients referred for ID to different centers. Whereas, until now, SEMA6B variants have mainly been reported in patients with progressive myoclonic epilepsy, our study indicates that the clinical spectrum is wider and also includes non-syndromic ID without epilepsy or myoclonus. To assess the pathogenicity of these variants, selected mutated forms of Sema6b were overexpressed in Human Embryonic Kidney 293T (HEK293T) cells and in primary neuronal cultures. shRNAs targeting Sema6b were also used in neuronal cultures to measure the impact of the decreased Sema6b expression on morphogenesis and synaptogenesis. The overexpression of some variants leads to a subcellular mislocalization of SEMA6B protein in HEK293T cells and to a reduced spine density owing to loss of mature spines in neuronal cultures. Sema6b knockdown also impairs spine density and spine maturation. In addition, we conducted in vivo rescue experiments in chicken embryos with the selected mutated forms of Sema6b expressed in commissural neurons after knockdown of endogenous SEMA6B. We observed that expression of these variants in commissural neurons fails to rescue the normal axon pathway. In conclusion, identification of SEMA6B variants in patients presenting with an overlapping phenotype with ID and functional studies highlight the important role of SEMA6B in neuronal development, notably in spine formation and maturation and in axon guidance. This study adds SEMA6B to the list of ID-related genes.<\/jats:p>","DOI":"10.1093\/hmg\/ddac114","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T10:08:45Z","timestamp":1653300525000},"page":"3325-3340","source":"Crossref","is-referenced-by-count":19,"title":["<i>SEMA6B<\/i>\n                    variants cause intellectual disability and alter dendritic spine density and axon guidance"],"prefix":"10.1093","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3125-556X","authenticated-orcid":false,"given":"Am\u00e9lie","family":"Cordovado","sequence":"first","affiliation":[{"name":"UMR 1253, iBrain, University of Tours, INSERM , Tours 37032, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Schaettin","sequence":"additional","affiliation":[{"name":"Department of Molecular Life Sciences , Neuroscience Center Zurich, , Zurich 8057, Switzerland"},{"name":"University of Zurich , Neuroscience Center Zurich, , Zurich 8057, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e9d\u00e9ric","family":"Jeanne","sequence":"additional","affiliation":[{"name":"UMR 1253, iBrain, University of Tours, INSERM , Tours 37032, France"},{"name":"Genetics Department, University Hospital of Tours , Tours 37044, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veranika","family":"Panasenkava","sequence":"additional","affiliation":[{"name":"UMR 1253, iBrain, University of Tours, INSERM , Tours 37032, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8986-8222","authenticated-orcid":false,"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[{"name":"Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital , Dijon 21079, France"},{"name":"UMR1231 GAD, INSERM - Bourgogne-Franche Comt\u00e9 University , Dijon 21000, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Genetics Department, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, AP-HP. Sorbonne University , Paris 75651, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"Genetics Department, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, AP-HP. Sorbonne University , Paris 75651, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Doco-Fenzy","sequence":"additional","affiliation":[{"name":"University Hospital Reims, AMH2, Genetics Division, SFR CAP sant\u00e9 EA3801 , Reims 51100, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance","family":"Rodan","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics , Department of Pediatrics, , Boston, MA 02115, USA"},{"name":"Boston Children's Hospital , Department of Pediatrics, , Boston, MA 02115, USA"},{"name":"Department of Neurology, Boston Children's Hospital , Boston, MA 02115, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keri","family":"Ramsey","sequence":"additional","affiliation":[{"name":"Center for Rare Childhood Disorders, Translational Genomics Research Institute , Phoenix, AZ 85012, 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian R","family":"Ozmore","sequence":"additional","affiliation":[{"name":"Dartmouth Hitchcock Medical Center , Lebanon, NH 03766, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kali","family":"Juliette","sequence":"additional","affiliation":[{"name":"Neurology Department, Gillette Children's Specialty Healthcare , St Paul, MN 55101, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Torti","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth A","family":"Normand","sequence":"additional","affiliation":[{"name":"GeneDx , Gaithersburg, MD 20877, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Granger","sequence":"additional","affiliation":[{"name":"Genetics Division , Department of Pediatric Development and Rehabilitation, , Portland, OR 97227, USA"},{"name":"Randall Children\u2019s Hospital , Department of Pediatric Development and Rehabilitation, , Portland, OR 97227, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea K","family":"Petersen","sequence":"additional","affiliation":[{"name":"Genetics Division , Department of Pediatric Development and Rehabilitation, , Portland, OR 97227, USA"},{"name":"Randall Children\u2019s Hospital , Department of Pediatric Development and Rehabilitation, , Portland, OR 97227, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret G","family":"Au","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, University of Kentucky , Lexington, KY 40536, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliann P","family":"Matheny","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, University of Kentucky , Lexington, KY 40536, 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Italy"},{"name":"Fondazione Policlinico A. 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