{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:24:01Z","timestamp":1778664241690,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,11]],"date-time":"2025-03-11T00:00:00Z","timestamp":1741651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014717","name":"National Outstanding Youth Science Fund Project of National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801311"],"award-info":[{"award-number":["81801311"]}],"id":[{"id":"10.13039\/100014717","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>O'Donnell\u2013Luria\u2013Rodan (ODLURO) syndrome is an autosomal dominant disorder associated with <jats:italic>KMT2E<\/jats:italic> gene variants. ODLURO syndrome is characterized mainly by developmental delay, intellectual disability and macrocephaly or microcephaly; in some patients, it may manifest as autism or epilepsy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Trio whole\u2010exome sequencing was performed on a female infant with unexplained West syndrome and developmental regression. A de novo splicing variant in the <jats:italic>KMT2E<\/jats:italic> gene was identified. The effects of this variant were analysed via a minigene splice assay and in\u00a0vitro reverse transcription PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patient presented with spasmodic seizures and developmental delay at 6\u2009months of age. The video electroencephalogram (EEG) displayed hypsarrhythmia. Brain MRI revealed abnormal signals around the lateral ventricles and decreased white matter volume. A novel splicing variant in the <jats:italic>KMT2E<\/jats:italic> gene (NM_182931.3: c.1248_1248+9del) was identified in our proband. Sanger sequencing confirmed that the variant was not inherited from her parents. The in\u00a0vitro minigene assay confirmed that c.1248_1248+9del resulted in exon 12 skipping.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>To our knowledge, this is the first definite report of ODLURO syndrome with West syndrome as the original manifestation. The deleterious effects of <jats:italic>KMT2E<\/jats:italic> c.1248_1248+9del were demonstrated in our proband. Splicing variants in the <jats:italic>KMT2E<\/jats:italic> gene are rare, and our study expands the phenotype and genotype of ODLURO syndrome. Additional studies are needed to explore the genotype\u2013phenotype correlations of this disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jdn.70012","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T09:03:00Z","timestamp":1741770180000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel <i>KMT2E<\/i> Splicing Variant as a Cause of O'Donnell\u2013Luria\u2013Rodan Syndrome With West Syndrome: Expansion of the Phenotype and Genotype"],"prefix":"10.1002","volume":"85","author":[{"given":"Qianyun","family":"Cai","sequence":"first","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Department of Pediatrics, Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education Sichuan University  Chengdu Sichuan China"},{"name":"Department of Pediatrics, Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Department of Pediatrics, Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education Sichuan University  Chengdu Sichuan China"},{"name":"Department of Pediatrics, Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haijiao","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Department of Pediatrics, Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education Sichuan University  Chengdu Sichuan China"},{"name":"Department of Pediatrics, Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanmei","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Department of Pediatrics, Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education Sichuan University  Chengdu Sichuan China"},{"name":"Department of Pediatrics, Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, West China Second University Hospital Sichuan University  Chengdu China"},{"name":"Department of Pediatrics, Key Laboratory of Obstetric &amp; Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education Sichuan University  Chengdu Sichuan China"},{"name":"Department of Pediatrics, Key Laboratory of Development and Maternal and Child Diseases of Sichuan Province Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Yang","sequence":"additional","affiliation":[{"name":"Cipher Gene LLC  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao","family":"Qian","sequence":"additional","affiliation":[{"name":"Cipher Gene LLC  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-8129-4116","authenticated-orcid":false,"given":"Zhongjie","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, West China Hospital Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,11]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15040430"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.822096"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2036345100"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.641841"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.021"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107470"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"issue":"4","key":"e_1_2_8_13_1","first-page":"649","article-title":"Clinical and Genetic Analysis of a Case of O'Donnell\u2010Luria\u2010Rodan Syndrome Manifesting as Growth Retardation","volume":"49","author":"Yuan J.","year":"2024","journal-title":"Zhong nan Da Xue Xue Bao. Yi Xue ban"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-017-2470-8"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03563-8"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.439729"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T14:12:16Z","timestamp":1745503936000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,11]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/jdn.70012"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70012","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,11]]},"assertion":[{"value":"2024-10-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70012"}}