{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:52:06Z","timestamp":1787964726970,"version":"build-2784847793"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T00:00:00Z","timestamp":1502841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100005340","name":"American Academy of Nursing","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005340","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["1K12NS098482\u201001"],"award-info":[{"award-number":["1K12NS098482\u201001"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>DNA alterations in the 1q43\u2010q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. <jats:italic>HNRNPU<\/jats:italic> is located within the 1q43\u2010q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous <jats:italic>HNRNPU<\/jats:italic> loss\u2010of\u2010function mutations detected by clinical whole exome sequencing: c.651_660del (p.Gly218Alafs*118), c.1089G&gt;A (p.Trp363*), c.1714C&gt;T (p.Arg572*), and c.2270_2271del (p.Pro757Argfs*7). All patients shared similar clinical features as previously reported including seizures, global developmental delay, intellectual disability, variable neurologic regression, behavior issues, and dysmorphic facial features. Features including heart defects and kidney abnormalities were not reported in our patients. These findings expands the clinical spectrum of <jats:italic>HNRNPU<\/jats:italic>\u2010related disorder and shows that <jats:italic>HNRNPU<\/jats:italic> contributes to a subset of the clinical phenotypes associated with the contiguous 1q43\u2010q44 deletion syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38388","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T07:51:05Z","timestamp":1502956265000},"page":"2680-2689","source":"Crossref","is-referenced-by-count":42,"title":["Clinical and molecular characterization of de novo loss of function variants in <i>HNRNPU<\/i>"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3815-5510","authenticated-orcid":false,"given":"Magalie S.","family":"Leduc","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hsiao\u2010Tuan","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Pediatric Neurology Baylor College of Medicine Houston Texas"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunjing","family":"Qu","sequence":"additional","affiliation":[{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Walkiewicz","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Magoulas","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shujuan","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joke","family":"Beuten","sequence":"additional","affiliation":[{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weimin","family":"He","sequence":"additional","affiliation":[{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics Stanford University School of Medicine Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Eng","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Genetics Laboratories Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,16]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1795-6"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.04.001"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2646"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.235"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.249"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1772-0"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.154"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36710"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1992.tb05331.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11922"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160465.113"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.12.008"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.09.014"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2013.09.016"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.200"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.171"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100819"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11248-004-8147-8"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.005"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35423"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055830"},{"key":"e_1_2_6_28_1","unstructured":"VeithR. CareyL. HelblingD. TschannenM. Wendt\u2010AndraeJ. WaknitzM. &ScharerG.2014. Novelde novosequence variation in HNRNPU gene is associated with generalized epilepsy responsive to ketogenic diet. ASHG Abstract 3086M.http:\/\/www.ashg.org\/2014meeting\/abstracts\/fulltext\/f140123410.htm"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2014.14601"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp250"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.191"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38388","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38388","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.38388","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38388","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T22:33:20Z","timestamp":1693348400000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,16]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1002\/ajmg.a.38388"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38388","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,16]]}}}