{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T06:57:25Z","timestamp":1761375445969,"version":"build-2065373602"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:00:00Z","timestamp":1760313600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100015507","name":"Shandong First Medical University","doi-asserted-by":"publisher","award":["2019QL023"],"award-info":[{"award-number":["2019QL023"]}],"id":[{"id":"10.13039\/501100015507","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["ZR2020MH144"],"award-info":[{"award-number":["ZR2020MH144"]}],"id":[{"id":"10.13039\/501100007129","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To report the clinical manifestations, treatment, and genetic diagnosis of a patient with osteo\u2010oto\u2010hepato\u2010enteric (O2HE) syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      A retrospective analysis was performed on a Chinese premature infant born at 36\u2009+\u20095\u2009weeks of gestation. The analysis included maternal pregnancy and delivery history, prenatal ultrasound findings, clinical manifestations, diagnosis and treatment process, and\n                      <jats:italic>UNC45A<\/jats:italic>\n                      gene mutation results for the infant and parents. A literature review was also conducted. The mother had a history of six spontaneous abortions. A late\u2010pregnancy prenatal ultrasound revealed polyhydramnios and diffuse intestinal dilation. The infant developed watery stools and diarrhea shortly after birth and was clinically suspected to have congenital chloride diarrhea. Supportive treatment was administered, and whole\u2010exome sequencing was performed for the family. Two heterozygous mutations were identified in the\n                      <jats:italic>UNC45A<\/jats:italic>\n                      gene, including c.2455C\u2009&gt;\u2009T (p.Arg819Ter), a novel, previously unreported variant. The infant was ultimately diagnosed with osteo\u2010oto\u2010hepatoenteric syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Genetic analysis of the\n                      <jats:italic>UNC45A<\/jats:italic>\n                      gene is valuable for diagnosing O2HE syndrome. The novel mutation c.2455C\u2009&gt;\u2009T (p.Arg819Ter) enriches the mutation spectrum of\n                      <jats:italic>UNC45A<\/jats:italic>\n                      , providing further theoretical support for diagnosis and genetic counseling of O2HE.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70149","type":"journal-article","created":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T01:53:27Z","timestamp":1760406807000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case Report and Literature Review on Osteo\u2010Oto\u2010Hepato\u2010Enteric Syndrome in Premature Infants Caused by\n                    <scp>UNC45A<\/scp>\n                    Deficiency"],"prefix":"10.1002","volume":"13","author":[{"given":"Zhengda","family":"Sun","sequence":"first","affiliation":[{"name":"Department of NICU Jinan Maternity and Child Care Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9551-3284","authenticated-orcid":false,"given":"Qijun","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"},{"name":"Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziyue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Immunology, School of Basic Medical Science, Cheeloo College of Medicine Shandong University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaoling","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruihua","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00029.2007"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2023.103057"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.758006"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.5152\/TurkPediatriArs.2018.6929"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci154997"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.009"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpg.2021.101784"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.85.1.f65"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.12659\/ajcr.903433"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.1999.276.1.G7"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104693"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1505"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcmgh.2022.04.006"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.12659\/ajcr.936715"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1079481"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70149","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T06:50:29Z","timestamp":1761375029000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70149"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/mgg3.70149"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70149","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2025,10]]},"assertion":[{"value":"2025-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70149"}}