{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T06:57:22Z","timestamp":1786431442404,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,6,28]],"date-time":"2021-06-28T00:00:00Z","timestamp":1624838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes:\n                    <jats:italic>KATNAL1<\/jats:italic>\n                    and\n                    <jats:italic>HMGB1<\/jats:italic>\n                    . To date, no patients carrying a sequence\u2010level variant or a single gene deletion in\n                    <jats:italic>HMGB1<\/jats:italic>\n                    or\n                    <jats:italic>KATNAL1<\/jats:italic>\n                    have been described. Here we report six patients with loss\u2010of\u2010function variants involving\n                    <jats:italic>HMGB1<\/jats:italic>\n                    and who had phenotypic features similar to the previously described 13q12.3 microdeletion syndrome cases. Common features included developmental delay, language delay, microcephaly, obesity and dysmorphic features. In silico analyses suggest that\n                    <jats:italic>HMGB1<\/jats:italic>\n                    is likely to be intolerant to loss\u2010of\u2010function, and previous in vitro data are in line with the role of\n                    <jats:italic>HMGB1<\/jats:italic>\n                    in neurodevelopment. These results strongly suggest that haploinsufficiency of the\n                    <jats:italic>HMGB1<\/jats:italic>\n                    gene may play a critical role in the pathogenesis of the 13q12.3 microdeletion syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14015","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T04:48:13Z","timestamp":1624510093000},"page":"386-395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Heterozygous\n                    <scp>\n                      <i>HMGB1<\/i>\n                    <\/scp>\n                    loss\u2010of\u2010function variants are associated with developmental delay and microcephaly"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6744-2837","authenticated-orcid":false,"given":"K\u00e9vin","family":"Uguen","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHRU de Brest  Brest France"},{"name":"University Brest, Inserm, EFS  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6299-9230","authenticated-orcid":false,"given":"Kilannin","family":"Krysiak","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University in St. Louis School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9verine","family":"Audebert\u2010Bellanger","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHRU de Brest  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Redon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHRU de Brest  Brest France"},{"name":"University Brest, Inserm, EFS  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Benech","sequence":"additional","affiliation":[{"name":"University Brest, Inserm, EFS  Brest France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00e9onore","family":"Viora\u2010Dupont","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs FHU TRANSLAD, H\u00f4pital d'Enfants  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Tran Mau\u2010Them","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Fonctionnelle 6254 d'Innovation en Diagnostic G\u00e9nomique des Maladies Rares P\u00f4le de Biologie, CHU Dijon Bourgogne  Dijon France"},{"name":"Inserm \u2010 Universit\u00e9 de Bourgogne UMR1231 GAD, FHU\u2010TRANSLAD  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Rondeau","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique M\u00e9dicale AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Elsharkawi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Washington University in St. Louis School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge L.","family":"Granadillo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Washington University in St. Louis School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Neidich","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University in St. Louis School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia Azevedo","family":"Soares","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar\/Universidade do Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nat\u00e1liya","family":"Tkachenko","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es, Centro Hospitalar Universit\u00e1rio do Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivarajan","family":"M. Amudhavalli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendra","family":"Engleman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Children's Mercy Hospital  Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Boland","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay CEA, Centre National de Recherche en G\u00e9nomique Humaine  Evry France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Deleuze","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris\u2010Saclay CEA, Centre National de Recherche en G\u00e9nomique Humaine  Evry 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