{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T07:40:20Z","timestamp":1768290020086,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:00:00Z","timestamp":1690156800000},"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":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>BICRA<\/jats:italic>, a transcript regulator, was identified as the genetic factor of Coffin\u2013Siris syndrome 12 (CSS12) recently, which was characterized by diverse neurodevelopmental delays. Up to now, limited studies of <jats:italic>BICRA<\/jats:italic> in neurodevelopmental delay have been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical data such as EEGs, MRIs, routine blood, and physical examination were collected. Trio whole exome sequencing (WES) of the family was performed, and all variants with a minor allele frequency (&lt;0.01) in exon and canonical splicing sites were selected for further pathogenic evaluation. Candidate variants were validated by Sanger sequencing. <jats:italic>The BICRA\u2010related<\/jats:italic> literature was reviewed and the clinical characteristics were summarized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We reported a CSS12 proband with a narrow and slightly clinical phenotype who only exhibited language developmental delay, hypotonia, and slight gastrointestinal features. WES revealed a de novo variant in exon 6 of <jats:italic>BICRA<\/jats:italic> [NM_015711.3: c.1666C&gt;T, p.Gln556*]. This variant resulted in an early translation termination at 556th of BICRA, not collected in the public population database (gnomAD), and classified as pathogenic according to the ACMG guideline.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results expanded the pathogenic genetic and clinical spectrum of BICRA\u2010related diseases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2250","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T07:00:29Z","timestamp":1690182029000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A de novo variant of <scp><i>BICRA<\/i><\/scp> results in <scp>Coffin\u2013Siris<\/scp> syndrome 12"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6980-3934","authenticated-orcid":false,"given":"Youquan","family":"Tu","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology Ningbo Women and Children's Hospital  Ningbo China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunyan","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Ningbo Women and Children's Hospital  Ningbo China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Radiology Ningbo Women and Children's Hospital  Ningbo China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Ningbo Women and Children's Hospital  Ningbo China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengmeng","family":"Liang","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"}]}],"member":"311","published-online":{"date-parts":[[2023,7,24]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA117.001065"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2022.11.003"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.003"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt937"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.017"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.001"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01341-10"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6101"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2250","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T03:47:06Z","timestamp":1700279226000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2250"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,24]]},"references-count":13,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1002\/mgg3.2250"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2250","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,24]]},"assertion":[{"value":"2023-01-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2250"}}