{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:51:47Z","timestamp":1790985107377,"version":"4.1.0"},"reference-count":17,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T00:00:00Z","timestamp":1753660800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,2]]},"abstract":"\n Pathogenic variants in\n MPDZ<\/jats:italic>\n are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in\n MPDZ<\/jats:italic>\n , c.2650-1G>A in both siblings. These siblings present with features suggesting that\n MPDZ<\/jats:italic>\n pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non\u2013central nervous system features. We speculate that\n MPDZ<\/jats:italic>\n influences common morphogenetic pathways underlying these relationships.\n <\/jats:p>","DOI":"10.1177\/08830738251353005","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T08:06:19Z","timestamp":1753689979000},"page":"241-246","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Pathogenic Variants in\n MPDZ<\/i>\n are Associated with a Syndromic Neurodevelopmental Disorder: A Case Report and Review of the Literature"],"prefix":"10.1177","volume":"41","author":[{"given":"Warren","family":"Stopak","sequence":"first","affiliation":[{"name":"Children's Hospital of Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly A","family":"Keener","sequence":"additional","affiliation":[{"name":"Children's Hospital of Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9566-5579","authenticated-orcid":false,"given":"Vinod K","family":"Misra","sequence":"additional","affiliation":[{"name":"Children's Hospital of Michigan"},{"name":"Central Michigan University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,7,28]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201606430"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201809540"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101294"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24964"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0540-x"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-017-0438-4"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6546"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14563"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6614"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2022.2161580"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2023.06.006"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E19-02-0091"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-7872"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-018-0226-0"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/cells11223602"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.32860"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41569-018-0100-2"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251353005","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251353005","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251353005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:41:47Z","timestamp":1777495307000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251353005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,28]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1177\/08830738251353005"],"URL":"https:\/\/doi.org\/10.1177\/08830738251353005","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,28]]}}}