{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:17:34Z","timestamp":1772191054522,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T00:00:00Z","timestamp":1674432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>B\u2010Cell CLL\/Lymphoma 11B (BCL11B) is a C<jats:sub>2<\/jats:sub>H<jats:sub>2<\/jats:sub> zinc finger transcription factor that has broad biological functions and is essential for the development of the immune system, neural system, cardiovascular system, dermis, and dentition. Variants of <jats:italic>BCL11B<\/jats:italic> have been found in patients with neurodevelopmental disorders and immunodeficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) and clinical examinations were performed to identify the etiology of our patient. A variant in the <jats:italic>BCL11B<\/jats:italic> gene, NM_138576.4: c.1206delG (p.Phe403Serfs*2) was found and led to frameshift truncation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We reported a male patient with developmental delay and cerebral palsy who carried the <jats:italic>BCL11B<\/jats:italic> variant. The detailed clinical features, such as brain structure and immune detection, were described and reviewed in comparison to previous patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The BCL11B\u2010related neurodevelopmental disorders are rare, and only 17 variants in 25 patients have been found to date. Our report expands the variants spectrum of <jats:italic>BCL11B<\/jats:italic> and increases the case of neurodevelopmental abnormalities.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2132","type":"journal-article","created":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T08:32:19Z","timestamp":1674462739000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel variant in <scp><i>BCL11B<\/i><\/scp> in an individual with neurodevelopmental delay: A case report"],"prefix":"10.1002","volume":"11","author":[{"given":"Yonglin","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Rehabilitation, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoyi","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongwei","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongfang","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou 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":"Zuozhen","family":"Yang","sequence":"additional","affiliation":[{"name":"Cipher Gene LLC  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3972-5573","authenticated-orcid":false,"given":"Haifeng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation, the Children's Hospital Zhejiang University School of Medicine, National Clinical Research Center for Child Health  Hangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100041\u20101736193"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2004.12.036"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1523\/jneurosci.2986\u201007.2008"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1400930"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00103"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.772800"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2013.05.002"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy173"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.788278"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchemneu.2015.12.004"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104007"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1509164"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.897"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.v98.12.3413"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12287"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.544894"}],"container-title":["Molecular Genetics &amp; 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