{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:47:55Z","timestamp":1789019275676,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T00:00:00Z","timestamp":1751673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T00:00:00Z","timestamp":1751673600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    O'Donnell\u2010Luria\u2010Rodan syndrome (ODLURO) is a very rare disorder caused by heterozygous pathogenic variants in\n                    <jats:italic>KMT2E<\/jats:italic>\n                    . While intellectual disability is associated with this syndrome based on retrospective chart review, the neurocognitive phenotype remains unexplored. This case series provides insight into the cognitive profile of ODLURO and discusses these trends in the context of other better\u2010characterized disorders in the KMT2 families. This study involved a retrospective chart review of psychological or neuropsychological assessment reports from 10 patients with a likely pathogenic or pathogenic variant in\n                    <jats:italic>KMT2E<\/jats:italic>\n                    . The majority of participants scored within normal limits in verbal abstract reasoning and expressive vocabulary. In contrast, most participants performed below average to very low ranges in non\u2010verbal abstract reasoning, working memory, sight word reading, and math computation skills. Wilcoxon paired tests showed verbal reasoning was stronger than non\u2010verbal reasoning skills (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.04). Over half of respondents rated their children in the at\u2010risk to clinically significant range for attention problems and hyperactivity. Our cohort of patients with ODLURO presented with greater difficulties in non\u2010verbal reasoning, attention, working memory, sight word reasoning, and math computation skills, juxtaposed with relative strengths in verbal skills. Our resulting trends show some similarities to cognitive profiles of Wiedemann\u2013Steiner syndrome and Kabuki syndrome type 1, disorders caused by variants in\n                    <jats:italic>KMT2A<\/jats:italic>\n                    and\n                    <jats:italic>KMT2D,<\/jats:italic>\n                    respectively. Emergent findings suggest possible endophenotypes related to haploinsufficiency of the histone methyltransferases in the KMT2 group.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64160","type":"journal-article","created":{"date-parts":[[2025,7,5]],"date-time":"2025-07-05T07:39:55Z","timestamp":1751701195000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Delineating the Cognitive Profile of\n                    <scp>ODLURO<\/scp>\n                    Syndrome: Emergent Clues on the Endophenotype Across\n                    <scp>KMT2<\/scp>\n                    Disorders"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7193-4300","authenticated-orcid":false,"given":"Rowena","family":"Ng","sequence":"first","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland United States"},{"name":"Department of Psychiatry and Behavioral Sciences Johns Hopkins University School of Medicine  Baltimore Maryland United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6418-9592","authenticated-orcid":false,"given":"Anne","family":"O'Donnell\u2010Luria","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts United States"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts United States"},{"name":"Program in Medical and Population Genetics Broad Institute of MIT and Harvard  Cambridge Massachusetts United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Harris","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute  Baltimore Maryland United States"},{"name":"Department of Neurology Johns Hopkins University School of Medicine  Baltimore Maryland United States"},{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland United States"},{"name":"Department of Pediatrics Johns Hopkins University School of Medicine  Baltimore Maryland United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13254"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes13101761"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1611431114"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3009278"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1001702107"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz174"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3732-09.2010"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12596"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.04.009"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1007046"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41386-021-01109-z"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-022-03167-w"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30334"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12993"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/arclin\/acad060"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63040"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1355617722000467"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63351"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.021"},{"key":"e_1_2_9_21_1","unstructured":"Online Mendelian Inheritance in Man OMIM.2024.\u201cJohns Hopkins University Baltimore MD. MIM Number: 618512.\u201dhttps:\/\/omim.org\/."},{"key":"e_1_2_9_22_1","first-page":"1993","volume-title":"GeneReviews [Internet]","author":"Pais L.","year":"2024"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2003.tb07096.x"},{"key":"e_1_2_9_24_1","article-title":"In\u2010Utero Rescue of Neurological Dysfunction in a Mouse Model of Wiedemann\u2010Steiner Syndrome","author":"Reynisdottir T.","year":"2024","journal-title":"bioRxiv"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1715629"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62124"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00426-013-0537-1"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/jir.12597"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107470"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1159\/000356425"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.omtm.2021.02.011"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-017-2470-8"}],"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.64160","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.64160","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64160","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T14:49:29Z","timestamp":1772981369000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,5]]},"references-count":31,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["10.1002\/ajmg.a.64160"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64160","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,5]]},"assertion":[{"value":"2025-05-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e64160"}}