{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:18:00Z","timestamp":1772191080894,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81602300"],"award-info":[{"award-number":["81602300"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770236"],"award-info":[{"award-number":["81770236"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801373"],"award-info":[{"award-number":["81801373"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801445"],"award-info":[{"award-number":["81801445"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004608","name":"Natural Science Foundation of Jiangsu Province","doi-asserted-by":"publisher","award":["BK20160139"],"award-info":[{"award-number":["BK20160139"]}],"id":[{"id":"10.13039\/501100004608","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004608","name":"Natural Science Foundation of Jiangsu Province","doi-asserted-by":"publisher","award":["BK20181121"],"award-info":[{"award-number":["BK20181121"]}],"id":[{"id":"10.13039\/501100004608","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Next\u2010generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. <jats:italic>BCL11B<\/jats:italic>, encoding Cys<jats:sub>2<\/jats:sub>His<jats:sub>2<\/jats:sub> zinc finger transcription factor, is essential for the development of immune and neural systems.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Herein, we describe a Chinese girl presenting craniofacial abnormalities, developmental delay and intellectual disability with speech impairment. Exomes of genes were enriched with the Agilent SureSelect QXT ALL Human Exon V6 kit and sequenced on Illumina Hiseq 2500 platform.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>After variants filtering and annotation, we identified a de novo heterozygous 11bp frameshift mutation NM_138576.4: c.2190_2200delGGACGCACGAC (p.Thr730Thr<jats:italic>fs<\/jats:italic>*151) in exon 4 of <jats:italic>BCL11B<\/jats:italic>, which is expected to escape nonsense\u2010mediated mRNA decay and probably result in a truncated protein with lack of the C\u2010terminal DNA\u2010binding zinc\u2010finger domains.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This is the first report of NDD caused by a <jats:italic>BCL11B<\/jats:italic> variant in a Chinese population. The mutation identified in this report broadens the knowledge of mutation spectrum of <jats:italic>BCL11B<\/jats:italic> and might help in genetic counseling and reducing reproductive risk.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.897","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T06:03:06Z","timestamp":1564120986000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["A De Novo heterozygous frameshift mutation identified in <i>BCL11B<\/i> causes neurodevelopmental disorder by whole exome sequencing"],"prefix":"10.1002","volume":"7","author":[{"given":"Fengchang","family":"Qiao","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyu","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binbin","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianxin","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7824-7578","authenticated-orcid":false,"given":"Zhengfeng","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health care Hospital Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2004.12.036"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2986-07.2008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2010-11-318873"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.2183\/pjab.88.72"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2017.00089"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy173"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103964"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.2218"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1509164"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2017.11.003"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/gbb.12287"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.142"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3241"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3999"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0498-x"}],"container-title":["Molecular Genetics &amp; 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