{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T00:23:22Z","timestamp":1773275002157,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":48,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["23ek0109549"],"award-info":[{"award-number":["23ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Heterozygous loss\u2010of\u2010function variants in heterogeneous nuclear ribonucleoprotein U\n                    <jats:italic>(HNRNPU)<\/jats:italic>\n                    cause early\u2010onset developmental and epileptic encephalopathy with multiple congenital anomalies. Limited clinical information is currently available on\n                    <jats:italic>HNRNPU\u2010<\/jats:italic>\n                    related neurodevelopmental disorder. The patient was a 1\u2010year\u2010old Japanese girl with developmental delay, hypotonia, early\u2010onset epilepsy, respiratory distress, and distinctive facial features, including ptosis, epicanthus, a prominent nasal bridge, a wide nasal floor, a cleft soft palate, and micrognathia. Respiratory distress was caused by pharyngeal stenosis and laryngomalacia, which gradually worsened, necessitating a scheduled tracheostomy at 1\u2009year and 7\u2009months of age. We performed whole\u2010exome sequencing and identified a novel de novo nonsense variant in\n                    <jats:italic>HNRNPU<\/jats:italic>\n                    . We herein describe the first case of\n                    <jats:italic>HNRNPU\u2010<\/jats:italic>\n                    related neurodevelopmental disorder with severe airway anomalies and a novel nonsense variant, thereby expanding the phenotypic spectrum\n                  <\/jats:p>","DOI":"10.1111\/cga.70006","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T21:00:01Z","timestamp":1739912401000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Severe pharyngeal stenosis and laryngomalacia in an individual of\n                    <scp>HNRNPU<\/scp>\n                    \u2010related neurodevelopmental disorder associated with a novel nonsense variant"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-8375-9989","authenticated-orcid":false,"given":"Yusuke","family":"Sasaki","sequence":"first","affiliation":[{"name":"Department of Pediatrics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroaki","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu Prefectural General Medical Center  Gifu Japan"},{"name":"Department of Medical Genetics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukiko","family":"Kuroda","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumi","family":"Enomoto","sequence":"additional","affiliation":[{"name":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Naruto","sequence":"additional","affiliation":[{"name":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syunsuke","family":"Nagara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Japanese Red Cross Takayama Hospital  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshinari","family":"Koyama","sequence":"additional","affiliation":[{"name":"Department of Neonatology Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunihiro","family":"Matsunami","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatsuya","family":"Sakashita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu Prefectural General Medical Center  Gifu Japan"},{"name":"Department of Medical Genetics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9269-8017","authenticated-orcid":false,"given":"Hideo","family":"Kaneko","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoko","family":"Morimoto","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology Aichi Children's Health and Medical Center  Aichi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Imamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Kanagawa Children's Medical Center  Yokohama Japan"},{"name":"Clinical Research Institute Kanagawa Children's Medical Center  Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2010.08.006"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.05.029"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2013.06.026"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35423"},{"key":"e_1_2_8_6_1","unstructured":"BalasubramanianM AdamMP FeldmanJ et al.HNRNPU\u2010Related Neurodevelopmental Disorder GeneReviews\u00ae.2022. Accessed November 11 2024.https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK578573\/"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61599"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62677"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38492"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1795-6"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38388"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-024-01244-7"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.70006","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T09:16:30Z","timestamp":1766481390000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.70006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/cga.70006"],"URL":"https:\/\/doi.org\/10.1111\/cga.70006","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-06-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70006"}}