{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T18:16:16Z","timestamp":1783016176167,"version":"3.54.6"},"reference-count":54,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T00:00:00Z","timestamp":1775692800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["CN00000041; CUP J33C22001140001"],"award-info":[{"award-number":["CN00000041; CUP J33C22001140001"]}],"id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["MNESYS PE0000006\u2010DN. 1553 11.10.2022"],"award-info":[{"award-number":["MNESYS PE0000006\u2010DN. 1553 11.10.2022"]}],"id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["101156387"],"award-info":[{"award-number":["101156387"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The recently delineated KDM2B\u2010associated neurodevelopmental disorder (NDD) is characterized by developmental delay and variable co\u2010morbidity. Genotype\u2013phenotype correlations are emerging, in particular a distinct clinical presentation caused by CxxC domain variants. We report here a novel intragenic deletion which leads to in\u00a0vitro expression of a shortened KDM2B protein lacking the complete CxxC domain. In addition, we present data on 12 other individuals; two with larger 12q24.31 microdeletions, one with a frameshift variant, and nine with missense variants. We analyzed genotype\u2013phenotype correlations of this cohort combined with previously reported individuals (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200968) and classify 37 variants in 47 individuals as pathogenic or likely pathogenic. We observe a highly penetrant CxxC\u2010related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss\u2010of\u2010function variants and JmjC domain variants complicating variant classification and genetic counseling. We identify\n                    <jats:italic>KDM2B<\/jats:italic>\n                    as a strong contributor to the 12q24.31 microdeletion syndrome, while also addressing the role of additional genes in the region. Thus, our study defines the KDM2B\u2010NDD's clinical spectrum and highlights the importance of integrating molecular, (epi)genetic, and phenotypic data in NDD diagnostics.\n                  <\/jats:p>","DOI":"10.1111\/cge.70169","type":"journal-article","created":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T12:17:31Z","timestamp":1775737051000},"page":"150-164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comprehensive Assessment of the\n                    <scp>KDM2B<\/scp>\n                    \u2010Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome"],"prefix":"10.1111","volume":"110","author":[{"given":"Amber S. E.","family":"van Oirsouw","sequence":"first","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht, Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3828-4419","authenticated-orcid":false,"given":"Tzung\u2010Chien","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich\u2010Wilhelms\u2010University Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn","family":"Koetsier","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht, Utrecht University  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrazak","family":"Alali","sequence":"additional","affiliation":[{"name":"West Virginia University  Morgantown West Virginia 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[{"name":"Department of Genetics APHP Nord\u2010University Hospital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Chantot\u2010Bastaraud","sequence":"additional","affiliation":[{"name":"Department of G\u00e9n\u00e9tics APHP\u2010Hopital La Piti\u00e9 Salp\u00e9tri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3097-0388","authenticated-orcid":false,"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deanna Alexis","family":"Carere","sequence":"additional","affiliation":[{"name":"GeneDx, LLC  Gaithersburg Maryland 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Friedrich\u2010Wilhelms\u2010University Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Matthews","sequence":"additional","affiliation":[{"name":"West Virginia University  Morgantown West Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanda","family":"McNiven","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics McMaster University  Hamilton Canada"},{"name":"Genetics Program, Peterborough Regional Health Centre  Peterborough Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0446-3435","authenticated-orcid":false,"given":"Sarju G.","family":"Mehta","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust  Cambridge 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