{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T16:35:32Z","timestamp":1772987732471,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000},"content-version":"vor","delay-in-days":287,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    We report a 71\u2010year\u2010old female patient with a history of intellectual disabilities, dysmorphic features, schizoaffective disorder, bipolar type, and psychosis. Exome sequencing revealed a novel, heterozygous, predicted loss\u2010of\u2010function variant in the\n                    <jats:italic>BICRA<\/jats:italic>\n                    gene (NM_015711.3: c.1910del, p.[Leu637ArgfsTer87]). Heterozygous rare variants in\n                    <jats:italic>BICRA<\/jats:italic>\n                    have been associated with Coffin\u2013Siris Syndrome 12 (CSS\u201012; OMIM #619325). This is the oldest patient to date with a pathogenic variant in\n                    <jats:italic>BICRA<\/jats:italic>\n                    . This case report expands the clinical phenotype associated with\n                    <jats:italic>BICRA<\/jats:italic>\n                    variants and sheds light on the long\u2010term\u200b prognosis.\n                  <\/jats:p>","DOI":"10.1155\/crig\/4041217","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T05:04:16Z","timestamp":1760591056000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Variant in the\n                    <i>BICRA<\/i>\n                    Gene, Expanding the Phenotype: A Case Report"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6316-6997","authenticated-orcid":false,"given":"Catherine","family":"Kentros","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3438-5685","authenticated-orcid":false,"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2834-0843","authenticated-orcid":false,"given":"Mythily","family":"Ganapathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,15]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.21037\/tp.2020.02.02"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01242-6"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-021-08227-4"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.1352\/1934-9556-49.2.59"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.7860\/JCDR\/2014\/9336.5110"},{"key":"e_1_2_11_6_2","unstructured":"OMIM Coffin-Siris Syndrome 12; CSS12 2024 https:\/\/www.omim.org\/entry\/619325."},{"key":"e_1_2_11_7_2","unstructured":"Prevention Genetics PGxome\u2014Whole Exome Sequencing 2024 https:\/\/www.preventiongenetics.com\/pgxome\/rapid."},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/bcp.12985"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.09.017"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.11.003"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2022.11.003"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2250"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/4041217","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/4041217","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/4041217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:05:57Z","timestamp":1772967957000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/4041217"}},"subtitle":[],"editor":[{"given":"Irfan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crig\/4041217"],"URL":"https:\/\/doi.org\/10.1155\/crig\/4041217","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-09-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"4041217"}}