{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T05:31:03Z","timestamp":1787376663254,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T00:00:00Z","timestamp":1787270400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100008795","name":"Manitoba Medical Service Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008795","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    IRF2BPL\u2010related disorder is a neurodevelopmental disorder caused by heterozygous variants in the\n                    <jats:italic>IRF2BPL<\/jats:italic>\n                    (Interferon Regulatory Factor 2 Binding Protein\u2010Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression. Although emerging reports suggest broad relationships between variant class\/location and severity, genotype\u2013phenotype correlations remain incompletely defined. We developed a retrospective and prospective patient\u2010reported survey to assess diagnostic information, presenting symptoms, and longitudinal follow\u2010up of neurological symptoms for up to two years. Clinical information was available for all 32 participants and was highly variable in regards to age at symptom onset, severity of neurologic manifestations, and progressivity. For 27 of the 32 participants, diagnostic genetic test results were available. Genetic mutation analysis revealed 22 individuals with truncating variants and five participants with unique missense variants in\n                    <jats:italic>IRF2BPL<\/jats:italic>\n                    . The study data support the hypothesis that\n                    <jats:italic>IRF2BPL<\/jats:italic>\n                    missense variants are associated with a less severe disease presentation and progression than participants with truncating variants. The purpose of this study is to further define IRF2BPL\u2010related disorder and provide more clinical and molecular insight into this ultra\u2010rare disease.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.b.70032","type":"journal-article","created":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T05:21:51Z","timestamp":1787376111000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Patient and Family Reported Clinical Picture of\n                    <scp>\n                      <i>IRF2BPL<\/i>\n                    <\/scp>\n                    \u2010Related Disorders"],"prefix":"10.1002","author":[{"given":"Zoe","family":"Goldstone\u2010Joubert","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0906-9457","authenticated-orcid":false,"given":"Danielle M.","family":"Pascual","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"},{"name":"Children's Hospital Research Institute of Manitoba (CHRIM), University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie Anne","family":"Bailey","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loren D. M.","family":"Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8011-7852","authenticated-orcid":false,"given":"Paul C.","family":"Marcogliese","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"},{"name":"Children's Hospital Research Institute of Manitoba (CHRIM), University of Manitoba  Winnipeg Manitoba Canada"},{"name":"Excellence in Neurodevelopment and Rehabilitation Research in Child Health (ENRRICH) Theme  Winnipeg Manitoba Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.14802\/jmd.25030"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1151"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.10.033"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.09.020"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17634"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010019\u201005109\u20107"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2021.08.013"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/nxg.0000000000200096"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm10040281"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/11795735231181467"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13908"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010025\u201001316\u20102"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00787\u2010024\u201002522\u20107"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000041078"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.07.006"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100143\u20100"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2022.04.010"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.03.030"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2020.11.006"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.006"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61328"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2019.01.017"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100810\u2010x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/mlr.0b013e31829b1d84"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61401"},{"key":"e_1_2_10_28_1","doi-asserted-by":"crossref","unstructured":"Vanagunas T. E. U.Seiwert T. R.Larsh P. C.Marcogliese andL. 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