{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:29:34Z","timestamp":1790746174690,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T00:00:00Z","timestamp":1644364800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in heterogeneous nuclear ribonucleoprotein U (\n                    <jats:italic>HNRNPU)<\/jats:italic>\n                    results in a novel neurodevelopmental disorder recently delineated. Here, we report on 17 previously unpublished patients carrying\n                    <jats:italic>HNRNPU<\/jats:italic>\n                    pathogenic variants. All patients were found to harbor\n                    <jats:italic>de novo<\/jats:italic>\n                    loss\u2010of\u2010function variants except for one individual where the inheritance could not be determined, as a parent was unavailable for testing. All patients had seizures which started in early childhood, global developmental delay, intellectual disability, and dysmorphic features. In addition, hypotonia, behavioral abnormalities (such as autistic features, aggression, anxiety, and obsessive\u2013compulsive behaviors), and cardiac (septal defects) and\/or brain abnormalities (ventriculomegaly and corpus callosum thinning\/agenesis) were frequently observed. We have noted four recurrent variants in the literature (c.1089G&gt;A p.(Trp363*), c.706_707del p.(Glu236Thrfs*6), c.847_857del p.(Phe283Serfs*5), and c.1681dels p.(Gln561Serfs*45)).\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62677","type":"journal-article","created":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T05:14:47Z","timestamp":1644383687000},"page":"1497-1514","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Expanding the phenotype of\n                    <scp>\n                      <i>HNRNPU<\/i>\n                    <\/scp>\n                    \u2010related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2552-4196","authenticated-orcid":false,"given":"James","family":"Taylor","sequence":"first","affiliation":[{"name":"Medical School University of Sheffield  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Spiller","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara","family":"Ranguin","sequence":"additional","affiliation":[{"name":"Department of Genetics Reference Centre for Rare Diseases and Developmental Anomalies  Caen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[{"name":"Inserm, UMR1231, Equipe GAD, B\u00e2timent B3 Universit\u00e9 de Bourgogne Franche Comt\u00e9  Dijon Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christophe","family":"Philippe","sequence":"additional","affiliation":[{"name":"Inserm, UMR1231, Equipe GAD, B\u00e2timent B3 Universit\u00e9 de Bourgogne Franche Comt\u00e9  Dijon Cedex France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic G\u00e9nomique des Maladies Rares  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0526-465X","authenticated-orcid":false,"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"Inserm, UMR1231, Equipe GAD, B\u00e2timent B3 Universit\u00e9 de Bourgogne Franche Comt\u00e9  Dijon Cedex France"},{"name":"Unit\u00e9 Fonctionnelle Innovation en Diagnostic G\u00e9nomique des Maladies Rares  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine University of Naples Federico II  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-8819","authenticated-orcid":false,"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine University of Naples Federico II  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2959-0935","authenticated-orcid":false,"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[{"name":"Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI\u2010RARE, Groupe DI, Inserm U1298, INM Montpellier University, Centre Hospitalier Universitaire de Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"CHU de Nantes Service de G\u00e9n\u00e9tique M\u00e9dicale  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Neurology University of Colorado School of Medicine  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1488-3695","authenticated-orcid":false,"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Department of Oncology &amp; Metabolism University of Sheffield  Sheffield UK"},{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1795-6"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.04.001"},{"key":"e_1_2_10_5_1","article-title":"Functions of heterogeneous nuclear ribonucleoproteins in stem cell potency and differentiation","volume":"2013","author":"Chen Q.","year":"2013","journal-title":"BioMed Research International"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1772-0"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61599"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1683-5"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2008.03.004"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20100396"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2111"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38388"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0159018"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-020-02137-4"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10115"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35423"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-02770-z"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38492"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62677","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62677","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62677","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T05:25:26Z","timestamp":1692941126000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,9]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,5]]}},"alternative-id":["10.1002\/ajmg.a.62677"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62677","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,9]]},"assertion":[{"value":"2021-10-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-01-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}